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Article

Missense mutation in exon 2 of alpha-galactosidase A in a patient with Fabry disease.

Archives of dermatological research - 1 Apr 1997

Ishida S, Ichimura K, Yamakage A, Matsuzaki S, Yamazaki S

Abstract excerpt

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Topics

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Share to alpha-Galactosidase
Share to Cloning, Molecular
Share to Exons
Share to Fabry Disease

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Phenotype

Share to Point Mutation

Share to Sequence Analysis, DNA

Source

Identifiers

PMID: 9164641
DOI: 10.1007/s004030050196

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Missense mutation in exon 2 of alpha-galactosidase A in a patient with Fabry disease.PMID 9164641Read ↗

A novel mutation (E358K) in the alpha-galactosidase A gene detected in a Japanese family with Fabry disease.Semantic proximity Read ↗

Novel functional mutations of the galactosidase alpha (GLA) gene in Fabry disease.Semantic proximity Read ↗

Six novel mutations in the alpha-galactosidase A gene in families with Fabry disease.Semantic proximity Read ↗

A novel mutation (c. 1072_1074delGAG) in the alpha-galactosidase gene of a Taiwanese family with Fabry disease.Semantic proximity Read ↗

Novel sequence variants of the alpha-galactosidase A gene in patients with Fabry disease.Semantic proximity Read ↗

Fabry Disease: Thirty-Five Mutations in the α-Galactosidase A Gene in Patients with Classic and Variant PhenotypesSemantic proximity Read ↗

Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene.Semantic proximity Read ↗

Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease.Semantic proximity Read ↗

Analysis of the alpha galactosidase gene: mutation profile and description of two novel mutations with extensive literature review in Turkish population.Semantic proximity Read ↗

Analysis of splice-site mutations of the alpha-galactosidase A gene in Fabry disease.Semantic proximity Read ↗

Fabry disease: 45 novel mutations in the alpha-galactosidase A gene causing the classical phenotype.Semantic proximity Read ↗

Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease.Semantic proximity Read ↗

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