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Article

Fabry disease: fourteen alpha-galactosidase A mutations in unrelated families from the United Kingdom and other European countries.

European journal of human genetics : EJHG - 1 Jan 1996

Davies J P, Eng C M, Hill J A, Malcolm S, MacDermot K, Winchester B, Desnick R J

Abstract excerpt

The nature of the molecular lesions in the alpha-galactosidase A gene causing Fabry disease in 12 unrelated families from the United Kingdom and 4 from other European countries was determined in order to provide precise heterozygote detection and prenatal diagnosis for these families. The entire...

Topics

Fabry Disease
Female
Germany
Heterozygote
Humans
Ireland
Male
Middle Aged
Mutation
Polymorphism, Single-Stranded Conformational
Sequence Analysis, DNA
Slovenia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

United Kingdom

alpha-Galactosidase

Source

Identifiers

PMID: 8875188
DOI: 10.1159/000472202

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8875188-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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