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Article

Sequence variations in the first exon of alpha-galactosidase A.

Journal of medical genetics - 1 Aug 1993

Davies J P, Winchester B G, Malcolm S

Abstract excerpt

The alpha-galactosidase A gene (GALA), which is deficient in males with Anderson-Fabry disease, is shown to be remarkably polymorphic in the 5' untranslated region. GALA contains seven exons. The first exon contains 60 bp of 5' untranslated sequence before the methionine initiation codon. Single strand conformation polymorphism (SSCP) screening has shown three polymorphic variants from the published sequence...

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Identifiers

PMID: 8411052
DOI: 10.1136/jmg.30.8.658
PMCID: PMC1016494

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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