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[PMID]:28748763
[Au] Autor:Nair M; Sandhu SS; Sharma AK
[Ad] Endereço:Stem Cell Technology Laboratory, Centre for Scientific Research & Development, People's University, Bhopal, M.P. - 462037. India.
[Ti] Título:Induced Pluripotent Stem Cell Technology: A Paradigm Shift in Medical Science for Drug Screening and Disease Modeling.
[So] Source:Curr Med Chem;24(39):4368-4398, 2017.
[Is] ISSN:1875-533X
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Induced Pluripotent Stem Cell (IPSC) Technology is the most advanced research as it offers an attractive alternative for establishing patient-specific IPSCs to recapitulate phenotypes of not only monogenic diseases (viz. Thalassaemia, Sickle cell anemia, Haemophilia, Tay-Sachs disease), but also late-onset polygenic diseases (viz. Parkinson's disease, Alzheimer's disease, schizophrenia). Over the hindsight, numerous studies of the past and current scientists have led to the production, maturation and understanding of induced pluripotent stem cell technology and its use in basic and clinical research. METHODS: A systematic search of peer-reviewed scientific literature and clinical trials in public databases were carried out to summarize the evidence on the use of IPSC. RESULTS: Current review sheds light upon the use of patient-derived iPSC models in drug toxicity, screening and discovery which have been derived after referring to more than 200 articles in literature. Furthermore, their use as disease models was also studied signifying the versatility of iPSC lines. CONCLUSION: Through this review, we describe the advent of iPSC technology, where we comprehensively cover the generation of iPSCs and their characterization along with their prospective applications using IPSC banks in disease modeling and drug screening.
[Mh] Termos MeSH primário: Modelos Animais de Doenças
Células-Tronco Pluripotentes Induzidas
Transplante de Células-Tronco
[Mh] Termos MeSH secundário: Doença de Alzheimer/terapia
Anemia Falciforme/terapia
Animais
Avaliação Pré-Clínica de Medicamentos
Hemofilia A/terapia
Seres Humanos
Doença de Parkinson/terapia
Esquizofrenia/terapia
Doença de Tay-Sachs/terapia
Talassemia/terapia
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180101
[Lr] Data última revisão:
180101
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170728
[St] Status:MEDLINE
[do] DOI:10.2174/0929867324666170727100508


  2 / 918 MEDLINE  
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[PMID]:28923328
[Au] Autor:Duarte AJ; Ribeiro D; Oliveira P; Amaral O
[Ad] Endereço:Departamento de Genética Humana-Unidade I and D-P, CSPGF, Instituto Nacional de Saúde Ricardo Jorge (INSA, IP), Porto, Portugal.
[Ti] Título:Mutation Frequency of Three Neurodegenerative Lysosomal Storage Diseases: From Screening to Treatment?
[So] Source:Arch Med Res;48(3):263-269, 2017 Apr.
[Is] ISSN:1873-5487
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: The ascertainment of mutation frequencies in the general population may have impact on the population's wellbeing and respective healthcare services. Furthermore, it may help define which approaches will be more effective for certain patients based on the genetic cause of disease. AIM OF THE STUDY: Determine the frequency of three mutations, known to be a major cause of three distinct Lysosomal Storage Diseases (LSDs). METHODS: The following pre-requisites were met: each mutation accounted for over 55% of the disease alleles among previously reported unrelated patients, all three diseases were among the most prevalent LSDs in the population under study, they all involved devastating deterioration of the nervous system, lacked curative treatment and may be fatal in childhood or adolescence. The anonymous samples used in this study were representative of the whole population; mutations were tested by PCR based methods, positive results were further confirmed. The diseases studied were Mucopolysaccharidosis type I (Hurler, MIM 607014), Tay Sachs disease variant B1 (TS, MIM 272800) and Metachromatic Leukodystrophy (MLD, MIM 250100); the mutations were, respectively, p.W402X, p.R178C and c.465+1G>A. RESULTS AND CONCLUSION: Increased carrier frequencies were found for Tay Sachs disease variant B1 HEXA p.R178C mutation (1:340) and for the infantile MLD ARSA c.465+1G> A mutation (1:350) denoting higher risk for these sub-types of disease in Portugal and possibly in individuals of Iberian ancestry. Carrier screening in target populations may provide the foundations for more effective approaches to precision medicine.
[Mh] Termos MeSH primário: Leucodistrofia Metacromática/genética
Mucopolissacaridose I/genética
Doença de Tay-Sachs/genética
[Mh] Termos MeSH secundário: Alelos
Seres Humanos
Recém-Nascido
Mutação
Taxa de Mutação
Portugal
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171023
[Lr] Data última revisão:
171023
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170920
[St] Status:MEDLINE


  3 / 918 MEDLINE  
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[PMID]:28225426
[Au] Autor:Committee on Genetics
[Ti] Título:Committee Opinion No. 691: Carrier Screening for Genetic Conditions.
[So] Source:Obstet Gynecol;129(3):e41-e55, 2017 03.
[Is] ISSN:1873-233X
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Carrier screening is a term used to describe genetic testing that is performed on an individual who does not have any overt phenotype for a genetic disorder but may have one variant allele within a gene(s) associated with a diagnosis. Information about carrier screening should be provided to every pregnant woman. Carrier screening and counseling ideally should be performed before pregnancy because this enables couples to learn about their reproductive risk and consider the most complete range of reproductive options. A patient may decline any or all screening. When an individual is found to be a carrier for a genetic condition, his or her relatives are at risk of carrying the same mutation. The patient should be encouraged to inform his or her relatives of the risk and the availability of carrier screening. If an individual is found to be a carrier for a specific condition, the patient's reproductive partner should be offered testing in order to receive informed genetic counseling about potential reproductive outcomes. If both partners are found to be carriers of a genetic condition, genetic counseling should be offered. What follows is a detailed discussion of some of the more common genetic conditions for which carrier screening is recommended in at least some segments of the population.
[Mh] Termos MeSH primário: Triagem de Portadores Genéticos
Aconselhamento Genético
Testes Genéticos/normas
Judeus/genética
[Mh] Termos MeSH secundário: Fibrose Cística/genética
Revelação
Europa Oriental/etnologia
Feminino
Síndrome do Cromossomo X Frágil/genética
Hemoglobinopatias/genética
Seres Humanos
Aceitação pelo Paciente de Cuidados de Saúde
Educação de Pacientes como Assunto
Gravidez
Medição de Risco
Doença de Tay-Sachs/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE; PRACTICE GUIDELINE
[Em] Mês de entrada:1706
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170223
[St] Status:MEDLINE
[do] DOI:10.1097/AOG.0000000000001952


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[PMID]:27682588
[Au] Autor:Dersh D; Iwamoto Y; Argon Y
[Ad] Endereço:Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia and University of Pennsylvania, Philadelphia, PA 19104.
[Ti] Título:Tay-Sachs disease mutations in HEXA target the α chain of hexosaminidase A to endoplasmic reticulum-associated degradation.
[So] Source:Mol Biol Cell;27(24):3813-3827, 2016 Dec 01.
[Is] ISSN:1939-4586
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Loss of function of the enzyme ß-hexosaminidase A (HexA) causes the lysosomal storage disorder Tay-Sachs disease (TSD). It has been proposed that mutations in the α chain of HexA can impair folding, enzyme assembly, and/or trafficking, yet there is surprisingly little known about the mechanisms of these potential routes of pathogenesis. We therefore investigated the biosynthesis and trafficking of TSD-associated HexA α mutants, seeking to identify relevant cellular quality control mechanisms. The α mutants E482K and G269S are defective in enzymatic activity, unprocessed by lysosomal proteases, and exhibit altered folding pathways compared with wild-type α. E482K is more severely misfolded than G269S, as observed by its aggregation and inability to associate with the HexA ß chain. Importantly, both mutants are retrotranslocated from the endoplasmic reticulum (ER) to the cytosol and are degraded by the proteasome, indicating that they are cleared via ER-associated degradation (ERAD). Leveraging these discoveries, we observed that manipulating the cellular folding environment or ERAD pathways can alter the kinetics of mutant α degradation. Additionally, growth of patient fibroblasts at a permissive temperature or with chemical chaperones increases cellular Hex activity by improving mutant α folding. Therefore modulation of the ER quality control systems may be a potential therapeutic route for improving some forms of TSD.
[Mh] Termos MeSH primário: Hexosaminidase A/genética
Hexosaminidase A/metabolismo
[Mh] Termos MeSH secundário: Retículo Endoplasmático/metabolismo
Degradação Associada com o Retículo Endoplasmático/fisiologia
Células HEK293
Hexosaminidase A/biossíntese
Hexosaminidase A/fisiologia
Seres Humanos
Lisossomos/metabolismo
Chaperonas Moleculares/metabolismo
Mutação
Cultura Primária de Células
Transporte Proteico/fisiologia
Proteólise
Doença de Tay-Sachs/genética
Doença de Tay-Sachs/metabolismo
beta-N-Acetil-Hexosaminidases/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Molecular Chaperones); EC 3.2.1.52 (Hexosaminidase A); EC 3.2.1.52 (beta-N-Acetylhexosaminidases)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170906
[Lr] Data última revisão:
170906
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160930
[St] Status:MEDLINE


  5 / 918 MEDLINE  
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[PMID]:27491212
[Au] Autor:Altarescu G
[Ti] Título:Prevention is the Best Therapy: The Geneticist's Approach.
[So] Source:Pediatr Endocrinol Rev;13 Suppl 1:649-54, 2016 Jun.
[Is] ISSN:1565-4753
[Cp] País de publicação:Israel
[La] Idioma:eng
[Ab] Resumo:Abstract During the last two decades prenatal genetic screening and diagnosis has become the cornerstone of medical care for family planning to prevent genetic disease. Carrier screening programs for genetic disorders that are prevalent in various populations identify couples and pregnancies at risk of having an affected child. These couples can proceed with a choice of invasive prenatal diagnosis tests of the fetus (chorionic villous sampling and amniocentesis), or non-invasive prenatal testing of free fetal DNA circulation in the maternal blood which has emerged within the last few years and is currently available for fetal sexing for X Linked disorders. Despite the advances in prenatal diagnosis, couples found to have a fetus affected with a genetic disorder may need to face the dilemma of pregnancy termination. Preimplantation genetic diagnosis (PGD) is an alternative to preempt risk of having a child affected with a life-altering genetic disorder. This technique allows biopsy and genetic diagnosis of embryos obtained from in vitro fertilization by analysis of the genetic material from one or a few embryonic cells. Only unaffected embryos are returned to the mother to establish the pregnancy. We present our experience using PGD for four Lysosomal storage disorders: Tay Sachs, Gaucher type 1, Hunter and Fabry disease with some of the couples being carriers of more than one genetic disorder. PGD is applicable to most disorders for which the gene and the familial mutation are known and should be presented to couples as an alternative to invasive prenatal testing.
[Mh] Termos MeSH primário: Heterozigoto
Doenças por Armazenamento dos Lisossomos/prevenção & controle
Diagnóstico Pré-Implantação/métodos
[Mh] Termos MeSH secundário: Doença de Fabry/prevenção & controle
Feminino
Fertilização In Vitro
Doença de Gaucher/prevenção & controle
Seres Humanos
Doenças por Armazenamento dos Lisossomos/genética
Mucopolissacaridose II/prevenção & controle
Gravidez
Taxa de Gravidez
Doença de Tay-Sachs/prevenção & controle
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1608
[Cu] Atualização por classe:160805
[Lr] Data última revisão:
160805
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160806
[St] Status:MEDLINE


  6 / 918 MEDLINE  
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[PMID]:27362553
[Au] Autor:Mehta N; Lazarin GA; Spiegel E; Berentsen K; Brennan K; Giordano J; Haque IS; Wapner R
[Ad] Endereço:1 Counsyl , South San Francisco, California.
[Ti] Título:Tay-Sachs Carrier Screening by Enzyme and Molecular Analyses in the New York City Minority Population.
[So] Source:Genet Test Mol Biomarkers;20(9):504-9, 2016 Sep.
[Is] ISSN:1945-0257
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND AND AIMS: Carrier screening for Tay-Sachs disease is performed by sequence analysis of the HEXA gene and/or hexosaminidase A enzymatic activity testing. Enzymatic analysis (EA) has been suggested as the optimal carrier screening method, especially in non-Ashkenazi Jewish (non-AJ) individuals, but its utilization and efficacy have not been fully evaluated in the general population. This study assesses the reliability of EA in comparison with HEXA sequence analysis in non-AJ populations. METHODS: Five hundred eight Hispanic and African American patients (516 samples) had EA of their leukocytes performed and 12 of these patients who tested positive by EA ("carriers") had subsequent HEXA gene sequencing performed. RESULTS: Of the 508 patients, 25 (4.9%) were EA positive and 40 (7.9%) were inconclusive. Of the 12 patients who were sequenced, 11 did not carry a pathogenic variant and one carried a likely deleterious mutation (NM_000520.4(HEXA):c.1510C>T). CONCLUSIONS: High inconclusive rates and poor correlation between positive/inconclusive enzyme results and identification of pathogenic mutations suggest that ethnic-specific recalibration of reference ranges for EA may be necessary. Alternatively, HEXA gene sequencing could be performed.
[Mh] Termos MeSH primário: Ensaios Enzimáticos/métodos
Triagem de Portadores Genéticos/métodos
Doença de Tay-Sachs/enzimologia
Doença de Tay-Sachs/genética
Cadeia alfa da beta-Hexosaminidase/genética
Cadeia alfa da beta-Hexosaminidase/metabolismo
[Mh] Termos MeSH secundário: Afroamericanos/genética
Grupos Étnicos/genética
Testes Genéticos/métodos
Heterozigoto
Hispano-Americanos/genética
Seres Humanos
Judeus/genética
Mutação
Cidade de Nova Iorque/epidemiologia
Reprodutibilidade dos Testes
Análise de Sequência de DNA
Doença de Tay-Sachs/diagnóstico
Doença de Tay-Sachs/epidemiologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
EC 3.2.1.52 (HEXA protein, human); EC 3.2.1.52 (beta-Hexosaminidase alpha Chain)
[Em] Mês de entrada:1704
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160701
[St] Status:MEDLINE
[do] DOI:10.1089/gtmb.2015.0302


  7 / 918 MEDLINE  
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[PMID]:27351546
[Au] Autor:Liguori M; Tagarelli G; Romeo N; Bagalà A; Spadafora P
[Ad] Endereço:Institute of Biomedical Technologies, National Research Council, Section of Bari, Bari, Italy.
[Ti] Título:Identification of a patient affected by "Juvenile-chronic" Tay Sachs disease in South Italy.
[So] Source:Neurol Sci;37(11):1883-1885, 2016 Nov.
[Is] ISSN:1590-3478
[Cp] País de publicação:Italy
[La] Idioma:eng
[Mh] Termos MeSH primário: Doença de Tay-Sachs/genética
Doença de Tay-Sachs/fisiopatologia
[Mh] Termos MeSH secundário: Adulto
Consanguinidade
Feminino
Seres Humanos
Itália
[Pt] Tipo de publicação:CASE REPORTS; LETTER
[Em] Mês de entrada:1703
[Cu] Atualização por classe:171013
[Lr] Data última revisão:
171013
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160629
[St] Status:MEDLINE


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[PMID]:27235912
[Au] Autor:Yao R; Goetzinger KR
[Ad] Endereço:Department of Obstetrics, Gynecology and Reproductive Medicine, University of Maryland School of Medicine, 22 S Greene Street, Baltimore, MD 21201, USA.
[Ti] Título:Genetic Carrier Screening in the Twenty-first Century.
[So] Source:Clin Lab Med;36(2):277-88, 2016 Jun.
[Is] ISSN:1557-9832
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Historically, carrier screening for a small number of autosomal recessive disorders has been offered to targeted populations based on ethnicity and family history. These chosen disorders are associated with severe morbidity or mortality, have a well-established carrier frequency in the targeted population, and have an acceptably high detection rate to make screening efficient. With advancing genetic technology, expanded panels rapidly are being designed and offered to the panethnic general population. This article reviews current recommendations for ethnicity-specific carrier screening for common disorders as well as the limitations and counseling complexities associated with expanded panels.
[Mh] Termos MeSH primário: Triagem de Portadores Genéticos/métodos
Testes Genéticos/tendências
Heterozigoto
[Mh] Termos MeSH secundário: Adulto
Fibrose Cística/genética
Feminino
Aconselhamento Genético
Testes Genéticos/métodos
Seres Humanos
Atrofia Muscular Espinal/genética
Gravidez
Doença de Tay-Sachs/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1705
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160529
[St] Status:MEDLINE


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[PMID]:27197548
[Au] Autor:Karumuthil-Melethil S; Nagabhushan Kalburgi S; Thompson P; Tropak M; Kaytor MD; Keimel JG; Mark BL; Mahuran D; Walia JS; Gray SJ
[Ad] Endereço:1 Gene Therapy Center, University of North Carolina at Chapel Hill , Chapel Hill, North Carolina.
[Ti] Título:Novel Vector Design and Hexosaminidase Variant Enabling Self-Complementary Adeno-Associated Virus for the Treatment of Tay-Sachs Disease.
[So] Source:Hum Gene Ther;27(7):509-21, 2016 Jul.
[Is] ISSN:1557-7422
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:GM2 gangliosidosis is a family of three genetic neurodegenerative disorders caused by the accumulation of GM2 ganglioside (GM2) in neuronal tissue. Two of these are due to the deficiency of the heterodimeric (α-ß), "A" isoenzyme of lysosomal ß-hexosaminidase (HexA). Mutations in the α-subunit (encoded by HEXA) lead to Tay-Sachs disease (TSD), whereas mutations in the ß-subunit (encoded by HEXB) lead to Sandhoff disease (SD). The third form results from a deficiency of the GM2 activator protein (GM2AP), a substrate-specific cofactor for HexA. In their infantile, acute forms, these diseases rapidly progress with mental and psychomotor deterioration resulting in death by approximately 4 years of age. After gene transfer that overexpresses one of the deficient subunits, the amount of HexA heterodimer formed would empirically be limited by the availability of the other endogenous Hex subunit. The present study used a new variant of the human HexA α-subunit, µ, incorporating critical sequences from the ß-subunit that produce a stable homodimer (HexM) and promote functional interactions with the GM2AP- GM2 complex. We report the design of a compact adeno-associated viral (AAV) genome using a synthetic promoter-intron combination to allow self-complementary (sc) packaging of the HEXM gene. Also, a previously published capsid mutant, AAV9.47, was used to deliver the gene to brain and spinal cord while having restricted biodistribution to the liver. The novel capsid and cassette design combination was characterized in vivo in TSD mice for its ability to efficiently transduce cells in the central nervous system when delivered intravenously in both adult and neonatal mice. This study demonstrates that the modified HexM is capable of degrading long-standing GM2 storage in mice, and it further demonstrates the potential of this novel scAAV vector design to facilitate widespread distribution of the HEXM gene or potentially other similar-sized genes to the nervous system.
[Mh] Termos MeSH primário: Dependovirus/genética
Terapia Genética
Vetores Genéticos/administração & dosagem
Hexosaminidases/genética
Mutação/genética
Doença de Tay-Sachs/terapia
[Mh] Termos MeSH secundário: Animais
Animais Recém-Nascidos
Modelos Animais de Doenças
Feminino
Gangliosídeo G(M2)/metabolismo
Fígado/metabolismo
Camundongos
Camundongos Endogâmicos C57BL
Doença de Tay-Sachs/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
19600-01-2 (G(M2) Ganglioside); EC 3.2.1.- (Hexosaminidases)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170823
[Lr] Data última revisão:
170823
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160521
[St] Status:MEDLINE
[do] DOI:10.1089/hum.2016.013


  10 / 918 MEDLINE  
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[PMID]:27054707
[Au] Autor:Arjunan A; Litwack K; Collins N; Charrow J
[Ad] Endereço:The Division of Genetics, Birth Defects & Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.
[Ti] Título:Carrier screening in the era of expanding genetic technology.
[So] Source:Genet Med;18(12):1214-1217, 2016 Dec.
[Is] ISSN:1530-0366
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:PURPOSE: The Center for Jewish Genetics provides genetic education and carrier screening to individuals of Jewish descent. Carrier screening has traditionally been performed by targeted mutation analysis for founder mutations with an enzyme assay for Tay-Sachs carrier detection. The development of next-generation sequencing (NGS) allows for higher detection rates regardless of ethnicity. Here, we explore differences in carrier detection rates between genotyping and NGS in a primarily Jewish population. METHODS: Peripheral blood samples or saliva samples were obtained from 506 individuals. All samples were analyzed by sequencing, targeted genotyping, triplet-repeat detection, and copy-number analysis; the analyses were carried out at Counsyl. RESULTS: Of 506 individuals screened, 288 were identified as carriers of at least 1 condition and 8 couples were carriers for the same disorder. A total of 434 pathogenic variants were identified. Three hundred twelve variants would have been detected via genotyping alone. Although no additional mutations were detected by NGS in diseases routinely screened for in the Ashkenazi Jewish population, 26.5% of carrier results and 2 carrier couples would have been missed without NGS in the larger panel. CONCLUSION: In a primarily Jewish population, NGS reveals a larger number of pathogenic variants and provides individuals with valuable information for family planning.Genet Med 18 12, 1214-1217.
[Mh] Termos MeSH primário: Triagem de Portadores Genéticos
Testes Genéticos
Doença de Tay-Sachs/sangue
Doença de Tay-Sachs/genética
[Mh] Termos MeSH secundário: Adulto
Idoso
Feminino
Heterozigoto
Sequenciamento de Nucleotídeos em Larga Escala
Seres Humanos
Judeus/genética
Masculino
Meia-Idade
Saliva/metabolismo
Doença de Tay-Sachs/patologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1709
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160408
[St] Status:MEDLINE
[do] DOI:10.1038/gim.2016.30



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