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Article

Digenic inheritance of KRT5 and KRT14 mutations in a family with epidermolysis bullosa simplex.

The Australasian journal of dermatology - 1 May 2020

Yu Yueqian, Mi Zihao, Fu Xi'an, Wang Zhenzhen, Sun Lele, Liu Hong, Zhang Furen

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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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PMID: 31919841
DOI: 10.1111/ajd.13236

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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 ↗

Primers for exon-specific amplification of the KRT5 gene: identification of novel and recurrent mutations in epidermolysis bullosa simplex patients.Semantic proximity Read ↗

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