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Article

Three novel mutations in Iranian patients with Tay-Sachs disease.

Iranian biomedical journal - 1 Jan 2014

Jamali Solmaz, Eskandari Nasim, Aryani Omid, Salehpour Shadab, Zaman Talieh, Kamalidehghan Behnam, Houshmand Massoud

Abstract excerpt

BACKGROUND: Tay-Sachs disease (TSD), or GM2 gangliosidosis, is a lethal autosomal recessive neurodegenerative disorder, which is caused by a deficiency of beta-hexosaminidase A (HEXA), resulting in lysosomal accumulation of GM2 ganglioside. The aim of this study was to identify the TSD-causing mutations in an Iranian population. METHODS: In this study, we examined 31 patients for TSD-causing mutations using PCR,...

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Identifiers

PMID: 24518553
DOI: 10.6091/ibj.1137.2013
PMCID: PMC3933921

Genes

HEXA
HEXB

Variants

Provenance

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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