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...

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Hlavní autoři: Mistri, Mehul, Tamhankar, Parag M., Sheth, Frenny, Sanghavi, Daksha, Kondurkar, Pratima, Patil, Swapnil, Idicula-Thomas, Susan, Gupta, Sarita, Sheth, Jayesh
Médium: Artigo
Jazyk:Inglês
Vydáno: Public Library of Science 2012
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Research Article
On-line přístup: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
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