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Article

Novel de novo mutation in KRT14 underlies a localized form of epidermolysis bullosa simplex.

European journal of dermatology : EJD - 1 Jan 2000

Ołdak Monika, Przybylska Dorota, Kosińska Joanna, Federowicz Aneta, Woźniak Katarzyna, Płoski Rafał, Kowalewski Cezary

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Identifiers

PMID: 23774754
DOI: 10.1684/ejd.2013.2013

Genes

KRT14

Provenance

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Related research

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Novel de novo mutation in KRT14 underlies a localized form of epidermolysis bullosa simplex.PMID 23774754Read ↗

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

Coexistence of KRT14 and KRT5 mutations in a Polish patient with 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 ↗

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

EBS in Children with De Novo Pathogenic Variants Disturbing Krt14.Semantic proximity Read ↗

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

Genetic lessons learned from pathogenic variants in KRT1.Semantic proximity Read ↗

A missense mutation in KRT14 causing a dermatopathia pigmentosa reticularis/Naegeli-Franceschetti-Jadassohn phenotype.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 ↗

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

Identification of a novel causative mutation in KRT1 in diffuse palmoplantar keratoderma, facilitated by whole-exome sequencing.Semantic proximity Read ↗

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