Screening for Tay‐Sachs disease carriers by full‐exon sequencing with novel variant interpretation outperforms enzyme testing in a pan‐ethnic cohort

BACKGROUND: Pathogenic variants in HEXA that impair β‐hexosaminidase A (Hex A) enzyme activity cause Tay‐Sachs Disease (TSD), a severe autosomal‐recessive neurodegenerative disorder. Hex A enzyme analysis demonstrates near‐zero activity in patients affected with TSD and can also identify carriers, w...

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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: Cecchi, Alana C., Vengoechea, Elizabeth S., Kaseniit, Kristjan E., Hardy, Melanie W., Kiger, Laura A., Mehta, Nikita, Haque, Imran S., Moyer, Krista, Page, Patricia Z., Muzzey, Dale, Grinzaid, Karen A.
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2019
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Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6687860/
https://ncbi.nlm.nih.gov/pubmed/31293106
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.836
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