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Article

At least six different mutations in HEXA gene cause Tay-Sachs disease among the Turkish population.

Molecular genetics and metabolism - 1 Nov 1998

Ozkara H A, Navon R

Abstract excerpt

Twenty-five Turkish infants with Tay-Sachs disease (TSD) have been diagnosed in the past 8 years. All are from consanguineous, nonrelated families. The present study deals with the molecular basis of six Turkish TSD patients from five unrelated families in which the parents were first cousins. The five mutations identified in this study were INS-5 G-->A, R393X, R137X, 12-bp deletion in exon 10, and G454D. The...

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Source

Identifiers

PMID: 9851891
DOI: 10.1006/mgme.1998.2742

Genes

HEXA
INS

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

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At least six different mutations in HEXA gene cause Tay-Sachs disease among the Turkish population.PMID 9851891Read ↗

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Tay-Sachs Disease: Two Novel Rare HEXA Mutations from Pakistan and Morocco.Semantic proximity Read ↗

Characterization of two Turkish beta-hexosaminidase mutations causing Tay-Sachs disease.Semantic proximity Read ↗

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