Associated Papers
Missense mutation at the helix termination region in the 2B domain of keratin 14 in a Japanese family with epidermolysis bullosa simplex, generalized, other.
Kaneko S et al.
International Journal of Dermatology, 2011
Identification of novel and known KRT5 and KRT14 mutations in 53 patients with epidermolysis bullosa simplex: correlation between genotype and phenotype.
Arin MJ et al.
The British Journal of Dermatology, 2010
Easy method for keratin 14 gene amplification to exclude pseudogene sequences: new keratin 5 and 14 mutations in epidermolysis bullosa simplex.
Glász-Bóna A et al.
The Journal of Investigative Dermatology, 2009
A case of epidermolysis bullosa simplex with a newly found missense mutation and polymorphism in the highly conserved helix termination motif among type I keratins, which was previously reported as a pathogenic missense mutation.
Hattori N et al.
The British Journal of Dermatology, 2006
Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases.
Yasukawa K et al.
The British Journal of Dermatology, 2006
A human keratin 10 knockout causes recessive epidermolytic hyperkeratosis.
Müller FB et al.
Human Molecular Genetics, 2006
Three severe cases of EBS Dowling-Meara caused by missense and frameshift mutations in the keratin 14 gene.
Titeux M et al.
The Journal of Investigative Dermatology, 2006
Novel mechanism of revertant mosaicism in Dowling-Meara epidermolysis bullosa simplex.
Smith FJ et al.
The Journal of Investigative Dermatology, 2004
A novel nonsense mutation at E106 of the 2B rod domain of keratin 14 causes dominant epidermolysis bullosa simplex.
Gu LH et al.
The Journal of Dermatology, 2002
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