Associated Papers
Genotype and phenotype correlations in 441 patients with epidermolysis bullosa from China.
Chen F et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2023
KRT5 missense variant in a Cardigan Welsh Corgi with epidermolysis bullosa simplex.
Kiener S et al.
Animal Genetics, 2022
A de novo mutation in KRT5 in a crossbred calf with epidermolysis bullosa simplex.
Jacinto JGP et al.
Journal of Veterinary Internal Medicine, 2020
Next-generation sequencing through multigene panel testing for the diagnosis of hereditary epidermolysis bullosa in Chinese population.
Chen F et al.
Clinical Genetics, 2020
In silico analysis of all point mutations on the 2B domain of K5/K14 causing epidermolysis bullosa simplex: a genotype-phenotype correlation.
Banerjee S et al.
Molecular Biosystems, 2014
Epidermolysis bullosa simplex due to KRT5 mutations: mutation-related differences in cellular fragility and the protective effects of trimethylamine N-oxide in cultured primary keratinocytes.
Chamcheu JC et al.
The British Journal of Dermatology, 2010
Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases.
Yasukawa K et al.
The British Journal of Dermatology, 2006
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
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