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Article

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

Journal of the European Academy of Dermatology and Venereology : JEADV - 1 May 2017

Sugai T, Shinkuma S, Inafuku K, Takashima S, Nomura T, Fujita Y, Nakamura H, Shimizu H

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Share to Disease Progression
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Share to Epidermolysis Bullosa Simplex

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 27868258
DOI: 10.1111/jdv.14036

Genes

KRT5

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The first familial cases of epidermolysis bullosa simplex, generalized severe with p.Asn176Ser in KRT5 revealing the clinical chronology.PMID 27868258Read ↗

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

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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 ↗

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

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

New KRT10 gene mutation underlying the annular variant of bullous congenital ichthyosiform erythroderma with clinical worsening during pregnancy.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 ↗

One novel and two recurrent mutations in the keratin 5 gene identified in Chinese patients with epidermolysis bullosa simplex.Semantic proximity Read ↗

A de novo mutation in KRT5 in a crossbred calf with epidermolysis bullosa simplex.Semantic proximity Read ↗

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