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Article

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

Human mutation - 1 Jan 1998

Miyazaki T, Kajita M, Ohmori S, Mizutani N, Niwa T, Murata Y, Seo H

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Identifiers

PMID: 9452068
DOI: 10.1002/humu.1380110147

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.

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A novel mutation (E358K) in the alpha-galactosidase A gene detected in a Japanese family with Fabry disease.PMID 9452068Read ↗

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

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

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Missense mutation in exon 2 of alpha-galactosidase A in a patient 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 ↗

Functional and biological studies of α-galactosidase A variants with uncertain significance from newborn screening in Taiwan.Semantic proximity Read ↗

A novel small insertion mutation, C.1030_1031ins (T) in α-galactosidase A leads to renal variant fabry disease.Semantic proximity Read ↗

?-Galactosidase gene mutations in Fabry disease: heterogeneous expressions of mutant enzyme proteinsSemantic proximity Read ↗

Relationship between X-inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the α-galactosidase A gene in the Czech and Slovak populationSemantic proximity Read ↗

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

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