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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Mistri, Mehul, Tamhankar, Parag M., Sheth, Frenny, Sanghavi, Daksha, Kondurkar, Pratima, Patil, Swapnil, Idicula-Thomas, Susan, Gupta, Sarita, Sheth, Jayesh
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2012
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3377590/
https://ncbi.nlm.nih.gov/pubmed/22723944
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0039122
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados