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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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| Publicado no: | Pak J Med Sci |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Professional Medical Publications
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7501024/ https://ncbi.nlm.nih.gov/pubmed/32968423 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.12669/pjms.36.6.2579 |
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