Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India.
Tay Sachs disease (TSD) is a neurodegenerative disorder due to β-hexosaminidase A deficiency caused by mutations in the HEXA gene. The mutations leading to Tay Sachs disease in India are yet unknown. We aimed to determine mutations leading to TSD in India by complete sequencing of the HEXA gene. The...
Enregistré dans:
| Auteurs principaux: | , , , , , , , , |
|---|---|
| Format: | article |
| Langue: | EN |
| Publié: |
Public Library of Science (PLoS)
2012
|
| Sujets: | |
| Accès en ligne: | https://doaj.org/article/ab9224512e654c88a04c5b2bc0563030 |
| Tags: |
Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!
|