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A usual frameshift and delayed termination codon mutation in keratin 5 causes a novel type of epidermolysis bullosa simplex with migratory circinate erythema.
Gu LH, Kim SC, Ichiki Y, Park J, Nagai M, Kitajima Y. Gu LH, et al. J Invest Dermatol. 2003 Sep;121(3):482-5. doi: 10.1046/j.1523-1747.2003.12424.x. J Invest Dermatol. 2003. PMID: 12925204 Free article.
We identified a novel heterozygous deletion mutation (1649delG of KRT5) in both cases. This deletion is predicted to produce a mutant keratin 5 protein with a frameshift of its terminal 41 amino acids and 35 amino acids longer than the wild-type keratin 5 protein due to a …
We identified a novel heterozygous deletion mutation (1649delG of KRT5) in both cases. This deletion is predicted to produce a mutant …
A novel mutation and large size polymorphism affecting the V2 domain of keratin 1 in an African-American family with severe, diffuse palmoplantar keratoderma of the ichthyosis hystrix Curth-Macklin type.
Richardson ES, Lee JB, Hyde PH, Richard G. Richardson ES, et al. J Invest Dermatol. 2006 Jan;126(1):79-84. doi: 10.1038/sj.jid.5700025. J Invest Dermatol. 2006. PMID: 16417221 Free article.
We have studied a family with severe, diffuse, nonepidermolytic PPK and verrucous hyperkeratotic plaques over the joints and in flexures and identified a new KRT1 gene mutation that is predicted to completely alter the K1 tail domain. In addition, a new K1 size polymorphis …
We have studied a family with severe, diffuse, nonepidermolytic PPK and verrucous hyperkeratotic plaques over the joints and in flexures and …