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Article

Coexistence of KRT14 and KRT5 mutations in a Polish patient with epidermolysis bullosa simplex.

The British journal of dermatology - 1 Feb 2014

Wertheim-Tysarowska K, Sota J, Kutkowska-Kaźmierczak A, Woźniak K, Bal J, Kowalewski C

Abstract excerpt

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Topics

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Share to Child, Preschool
Share to Epidermolysis Bullosa Simplex
Share to Keratin-14
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24024749
DOI: 10.1111/bjd.12624

Genes

KRT14
KRT5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

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Coexistence of KRT14 and KRT5 mutations in a Polish patient with epidermolysis bullosa simplex.PMID 24024749Read ↗

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

Novel de novo mutation in KRT14 underlies a localized form of epidermolysis bullosa simplex.Semantic proximity Read ↗

Novel sporadic and recurrent mutations in KRT5 and KRT14 genes in Polish epidermolysis bullosa simplex patients: further insights into epidemiology and genotype-phenotype correlation.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 ↗

Autosomal recessive epidermolysis bullosa simplex due to KRT14 mutation: two large Palestinian families and literature review.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 ↗

Novel and recurrent mutations in keratin KRT5 and KRT14 genes in epidermolysis bullosa simplex: implications for disease phenotype and keratin filament assembly.Semantic proximity Read ↗

Keratins and epidermolysis bullosa simplexSemantic proximity Read ↗

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

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

Novel keratin 14 hotspot mutation in Dowling-Meara type of epidermolysis bullosa simplex: strategy to avoid KRT14 pseudogene amplification by a simple approach.Semantic proximity Read ↗

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