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Article

Tay-Sachs disease and HEXA mutations among Moroccan Jews.

Human mutation - 1 Jan 1997

Kaufman M, Grinshpun-Cohen J, Karpati M, Peleg L, Goldman B, Akstein E, Adam A, Navon R

Abstract excerpt

Moroccan Jewry (N>750,000) is the only non-Ashkenazi Jewish community in which Tay-Sachs disease (TSD) is not extremely rare. Previous studies among Moroccan Jewish TSD families identified three HEXA mutations. In this study, extended to enzyme-defined and new obilgate TSD carriers, we found four additional mutations. One of them is a novel, IVS5-2(A-->G) substitution, resulting in exon skipping, and it was found...

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Source

Identifiers

PMID: 9338583
DOI: 10.1002/(SICI)1098-1004(1997)10:4<295::AID-HUMU5>3.0.CO;2-G

Genes

HEXA

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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