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Article

Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.

American journal of human genetics - 1 Dec 1993

Eng C M, Resnick-Silverman L A, Niehaus D J, Astrin K H, Desnick R J

Abstract excerpt

Fabry disease, an X-linked inborn error of glycosphingolipid catabolism, results from mutations in the alpha-galactosidase A (alpha-Gal A) gene at Xq22.1. To determine the nature and frequency of the molecular lesions causing the classical and milder-variant Fabry phenotypes, and for precise carrier detection in Fabry families, the alpha-Gal A transcripts or genomic sequences from unrelated Fabry hemizygotes were...

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Identifiers

PMID: 7504405
PMCID: PMC1682507

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