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Article

Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India.

PloS one - 1 Jan 2012

Mistri Mehul, Tamhankar Parag M, Sheth Frenny, Sanghavi Daksha, Kondurkar Pratima, Patil Swapnil, Idicula-Thomas Susan, Gupta Sarita, Sheth Jayesh

Abstract excerpt

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 clinical inclusion criteria included neuroregression, seizures, exaggerated startle reflex, macrocephaly, cherry...

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Identifiers

PMID: 22723944
DOI: 10.1371/journal.pone.0039122
PMCID: PMC3377590

Genes

HEXA

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India.PMID 22723944Read ↗

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