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Article

Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease.

American journal of human genetics - 1 Nov 1990

Sakuraba H, Oshima A, Fukuhara Y, Shimmoto M, Nagao Y, Bishop D F, Desnick R J, Suzuki Y

Abstract excerpt

Efforts were directed to identify the specific mutations in the alpha-galactosidase A (alpha-Gal A) gene which cause Fabry disease in families of Japanese origin. By polymerase-chain-reaction-amplification of DNA from reverse-transcribed mRNA and genomic DNA, different point mutations were found in two unrelated Fabry hemizygotes. A hemizygote with classic disease manifestations and no detectable alpha-Gal A...

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Identifiers

PMID: 2171331
PMCID: PMC1683686

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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