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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

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