Загрузка...
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...
Сохранить в:
| Опубликовано в: : | Pak J Med Sci |
|---|---|
| Главные авторы: | , , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
Professional Medical Publications
2020
|
| Предметы: | |
| Online-ссылка: | 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 |
| Метки: |
Добавить метку
Нет меток, Требуется 1-ая метка записи!
|