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Article

Eight novel mutations in the HEXA gene.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2000

McGinniss Matthew J, Brown David H, Fulwiler Andrea, Marten Molly, Lim-Steele Joyce S T, Kaback Michael M

Abstract excerpt

PURPOSE: To characterize novel mutations in the HEXA gene (alpha-subunit beta-hexosaminidase A). METHODS: Subjects included participants in the California Tay-Sachs disease prevention program. DNA samples from 49 subjects (47 enzymatically defined carriers and 2 disease afflicted) who were negative for the four common disease-associated and the two pseudodeficient mutations, were subjected to single-strand...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 12180151
DOI: 10.1097/00125817-200205000-00010

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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