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Article

A novel mutation in the HEXA gene specific to Tay-Sachs disease carriers of Jewish Iraqi origin.

Clinical genetics - 1 May 2000

Karpati M, Peleg L, Gazit E, Akstein E, Goldman B

Abstract excerpt

An increased frequency of carriers of 1:140, as defined by reduced hexosaminidase A (HexA) activity, was observed among Iraqi Jews participating in the Tay-Sachs disease (TSD) carrier detection program. Prior to this finding, TSD among Jews had been restricted to those of Eastern European (Ashkenazi) and Moroccan descent with carrier frequencies of 1:29 and 1:110 for Jews of Ashkenazi and Moroccan extraction,...

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Source

Identifiers

PMID: 10852376
DOI: 10.1034/j.1399-0004.2000.570512.x

Genes

HEXA

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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