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Article

The P25L mutation in the KRT5 gene in a Japanese family with epidermolysis bullosa simplex with mottled pigmentation.

The British journal of dermatology - 1 Mar 2004

Hamada T, Ishii N, Kawano Y, Takahashi Y, Inoue M, Yasumoto S, Hashimoto T

Abstract excerpt

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15030360
DOI: 10.1046/j.1365-2133.2004.05820.x

Genes

KRT5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The P25L mutation in the KRT5 gene in a Japanese family with epidermolysis bullosa simplex with mottled pigmentation.PMID 15030360Read ↗

Coexistence of KRT14 and KRT5 mutations in a Polish patient with epidermolysis bullosa simplex.Semantic proximity Read ↗

In-frame Exon Skipping in KRT5 due to Novel Intronic Deletion Causes Epidermolysis Bullosa Simplex, Generalized Severe.Semantic proximity Read ↗

The common KRT9 gene mutation in a Japanese patient with epidermolytic palmoplantar keratoderma and knuckle pad-like keratoses.Semantic proximity Read ↗

Digenic inheritance of KRT5 and KRT14 mutations in a family with epidermolysis bullosa simplex.Semantic proximity Read ↗

Digenic inheritance in epidermolysis bullosa simplex involving two novel mutations in KRT5 and KRT14.Semantic proximity Read ↗

A novel KRT14 null mutation leads to autosomal recessive epidermolysis bullosa simplex.Semantic proximity Read ↗

Novel mutation of the KRT 10 gene in a Japanese patient with epidermolytic hyperkeratosis.Semantic proximity Read ↗

Clinical heterogeneity of 1649delG mutation in the tail domain of keratin 5: a Japanese family with epidermolysis bullosa simplex with mottled pigmentation.Semantic proximity Read ↗

The first familial cases of epidermolysis bullosa simplex, generalized severe with p.Asn176Ser in KRT5 revealing the clinical chronology.Semantic proximity Read ↗

A Review of 52 Pedigrees with Epidermolysis Bullosa Simplex Identifying Ten Novel Mutations in KRT5 and KRT14 in Australia.Semantic proximity Read ↗

An in-frame 18 bp deletion in linker domain L1 of KRT9 identified in a Japanese patient with epidermolytic palmoplantar keratoderma.Semantic proximity Read ↗

Distinct phenotype of epidermolysis bullosa simplex with infantile migratory circinate erythema due to frameshift mutations in the V2 domain of KRT5.Semantic proximity Read ↗

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