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...

Descripción completa

Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6687860/
https://www.ncbi.nlm.nih.gov/pubmed/31293106
http://dx.doi.org/10.1002/mgg3.836

Ejemplares similares

Ejemplares similares