Identification of Novel Mutations in HEXA Gene in Children Affected with Tay Sachs Disease from India

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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...

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Detalles Bibliográficos
Autores principales: Mistri, Mehul, Tamhankar, Parag M., Sheth, Frenny, Sanghavi, Daksha, Kondurkar, Pratima, Patil, Swapnil, Idicula-Thomas, Susan, Gupta, Sarita, Sheth, Jayesh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3377590/
https://www.ncbi.nlm.nih.gov/pubmed/22723944
http://dx.doi.org/10.1371/journal.pone.0039122

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3377590/
https://www.ncbi.nlm.nih.gov/pubmed/22723944
http://dx.doi.org/10.1371/journal.pone.0039122

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