Associated Papers
Epidermolysis bullosa simplex-generalized severe type due to keratin 5 p.Glu477Lys mutation: Genotype-phenotype correlation and in silico modeling analysis.
Lalor L et al.
Pediatric Dermatology, 2019
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s5.xls › VaribenchSelectedPure
Novel sporadic and recurrent mutations in KRT5 and KRT14 genes in Polish epidermolysis bullosa simplex patients: further insights into epidemiology and genotype-phenotype correlation.
Wertheim-Tysarowska K et al.
Journal of Applied Genetics, 2016
The p.Glu477Lys Mutation in Keratin 5 Is Strongly Associated with Mortality in Generalized Severe Epidermolysis Bullosa Simplex.
Sathishkumar D et al.
The Journal of Investigative Dermatology, 2016
Verrucous carcinoma in epidermolysis bullosa simplex is possibly associated with a novel mutation in the keratin 5 gene.
Schumann H et al.
The British Journal of Dermatology, 2012
Novel keratin 5 and 14 gene mutations in patients with epidermolysis bullosa simplex from Poland.
Hamada T et al.
Archives of Dermatological Research, 2005
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