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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...

Topics

Adult
Base Sequence
Blotting, Northern
Blotting, Southern
DNA
Fabry Disease
Genetic Carrier Screening
Humans
Male
Middle Aged
Molecular Sequence Data

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Polymerase Chain Reaction

RNA, Messenger

alpha-Galactosidase

Source

Open in PubMed Open full text

Identifiers

PMID: 2171331
PMCID: PMC1683686

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-2171331-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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