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Article

Novel K5 and K14 mutations in German patients with the Weber-Cockayne variant of epidermolysis bullosa simplex.

The Journal of investigative dermatology - 1 Nov 1998

Müller F B, Küster W, Bruckner-Tuderman L, Korge B P

Abstract excerpt

We report novel keratin 5 and 14 gene mutations in four unrelated German families with the localized subtype of the dominantly inherited blistering disease epidermolysis bullosa simplex Weber-Cockayne (MIM# 131800). The mutations are located in the keratin 14 L12 linker region (D273G), the keratin 5 L12 linker (M327K and D328H), and the H1 domain of keratin 5 (P156L). These mutations add to those previously...

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Source

Identifiers

PMID: 9804357
DOI: 10.1046/j.1523-1747.1998.00374.x

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Novel K5 and K14 mutations in German patients with the Weber-Cockayne variant of epidermolysis bullosa simplex.PMID 9804357Read ↗

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Mutations in the non-helical linker segment L1-2 of keratin 5 in patients with Weber-Cockayne epidermolysis bullosa simplex.Semantic proximity Read ↗

K5 D328E: a novel missense mutation in the linker 12 domain of keratin 5 associated with epidermolysis bullosa simplex (Weber-Cockayne).Semantic proximity Read ↗

Identification of novel and known mutations in the genes for keratin 5 and 14 in Danish patients with epidermolysis bullosa simplex: correlation between genotype and phenotype.Semantic proximity Read ↗

Novel keratin 5 and 14 gene mutations in patients with epidermolysis bullosa simplex from Poland.Semantic proximity Read ↗

Epidermolysis bullosa simplex in Scotland caused by a spectrum of keratin mutations.Semantic proximity Read ↗

Mutations in KRT5 and KRT14 cause epidermolysis bullosa simplex in 75% of the patients.Semantic proximity Read ↗

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