Whole exome sequencing reveals a homozygous nonsense mutation in HEXA gene leading to Tay-Sachs disease in Saudi Family

OBJECTIVE: To study the causative variants in affected member of a Saudi family with Tay-Sachs disorder. This disorder includes paralysis, decreasing in attentiveness, seizures, blindness, motor deterioration progresses rapidly leading to a completely unresponsive state and a cherry-red spot visible...

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Detalles Bibliográficos
Autores principales: Naseer, Muhammad Imran, Abdulkareem, Angham Abdulrahman, Jan, Mohammed Mohammed, Chaudhary, Adeel G., Al-Qahtani, Mohammad H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Professional Medical Publications 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7501024/
https://www.ncbi.nlm.nih.gov/pubmed/32968423
http://dx.doi.org/10.12669/pjms.36.6.2579

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7501024/
https://www.ncbi.nlm.nih.gov/pubmed/32968423
http://dx.doi.org/10.12669/pjms.36.6.2579

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