Associated Papers
Genetic profiling of epidermolysis bullosa in a large Brazilian cohort.
Ota VK 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
Ten years of DNA diagnostics of epidermolysis bullosa in the Czech Republic.
Kopečková L et al.
The British Journal of Dermatology, 2016
A novel KRT5 mutation, p.Lys199Asn, is associated with three subtypes of epidermolysis bullosa simplex phenotypes in a single Chinese family.
Deng W et al.
Journal of Dermatological Science, 2011
Development of allele-specific therapeutic siRNA for keratin 5 mutations in epidermolysis bullosa simplex.
Atkinson SD et al.
The Journal of Investigative Dermatology, 2011
Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex.
García M et al.
The British Journal of Dermatology, 2011
Modeling effects of mutations in coiled-coil structures: case study using epidermolysis bullosa simplex mutations in segment 1a of K5/K14 intermediate filaments.
Smith TA et al.
Proteins, 2004
A novel mutation in the second half of the keratin 17 1A domain in a large pedigree with delayed-onset pachyonychia congenita type 2.
Xiao SX et al.
The Journal of Investigative Dermatology, 2004
A new keratin 5 mutation (K199T) in a family with Weber-Cockayne epidermolysis bullosa simplex.
Xu Z et al.
Clinical and Experimental Dermatology, 2004
[A novel keratin 17 gene mutation in a Chinese pedigree of delayed-onset pachyonychia congenita type II].
Feng YG et al.
Zhonghua Yi Xue Za Zhi, 2003
Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations.
Schuilenga-Hut PH et al.
Human Mutation, 2003
[Epidermolysis bullosa simplex: genotype-phenotype correlation in Danish patients].
Sørensen CB et al.
Ugeskrift for Laeger, 2000
Identification of novel and known mutations in the genes for keratin 5 and 14 in Danish patients with epidermolysis bullosa simplex: correlation between genotype and phenotype.
Sørensen CB et al.
The Journal of Investigative Dermatology, 1999
Human keratin diseases: hereditary fragility of specific epithelial tissues.
Corden LD et al.
Experimental Dermatology, 1996
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