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Article

A de novo mutation in KRT5 in a crossbred calf with epidermolysis bullosa simplex.

Journal of veterinary internal medicine - 1 Nov 2020

Jacinto Joana G P, Häfliger Irene M, Veiga Inês M B, Drögemüller Cord, Agerholm Jørgen S

Abstract excerpt

A 6-day-old Belgian Blue-Holstein calf was referred because of a syndrome resembling epidermolysis bullosa simplex (EBS). The clinical phenotype included irregular and differently sized erosions and ulcerations spread over the body, in particular on the limbs and over bone prominences, as well as in the nasal planum and oral mucosa. Blisters were easily induced by rubbing the skin. The skin lesions displayed a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 33135329
DOI: 10.1111/jvim.15943
PMCID: PMC7694802

Genes

KRT5

Variants

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A de novo mutation in KRT5 in a crossbred calf with epidermolysis bullosa simplex.PMID 33135329Read ↗

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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 ↗

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 ↗

Spontaneous KRT5 Gene Mutation in Rhesus Macaques (Macaca mulatta): A Novel Nonhuman Primate Model of Epidermolysis Bullosa Simplex.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 ↗

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

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