Associated Papers
Molecular profiling of a cohort with epidermolysis bullosa in India: a single centre experience.
Kumar A et al.
Clinical and Experimental Dermatology, 2025
Allele-Specific Inactivation of an Autosomal Dominant Epidermolysis Bullosa Simplex Mutation Using CRISPR-Cas9.
Bchetnia M et al.
The Crispr Journal, 2022
Biallelic KRT5 mutations in autosomal recessive epidermolysis bullosa simplex, including a complete human keratin 5 "knock-out".
Vahidnezhad H et al.
Matrix Biology : Journal of the International Society for Matrix Biology, 2019
A homozygous frameshift variant in the KRT5 gene is compatible with life and results in severe recessive epidermolysis bullosa simplex.
Tryon RK et al.
Jaad Case Reports, 2019
"Nails Only" Phenotype and Partial Dominance of p.Glu170Lys Mutation in a Family with Epidermolysis Bullosa Simplex.
González-Cantero Á et al.
Pediatric Dermatology, 2017
The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.
Garofalo A et al.
Genome Medicine, 2016
27460824 (PubMed )
Supplement: 13073_2016_333_MOESM4_ESM.xlsx › all_matched_muts.maf
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
Coexistence of KRT14 and KRT5 mutations in a Polish patient with epidermolysis bullosa simplex.
Wertheim-Tysarowska K et al.
The British Journal of Dermatology, 2014
Gene dosage effect of p.Glu170Lys mutation in the KRT5 gene in a Polish family with epidermolysis bullosa simplex.
Ołdak M et al.
Journal of Dermatological Science, 2011
Dominant and recessive compound heterozygous mutations in epidermolysis bullosa simplex demonstrate the role of the stutter region in keratin intermediate filament assembly.
Yasukawa K et al.
The Journal of Biological Chemistry, 2002
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