Associated Papers
A novel frameshift truncation mutation in the V2 tail domain of KRT1 causes mild ichthyosis hystrix of Curth-Macklin.
Yang Z et al.
Clinical and Experimental Dermatology, 2020
Revertant mosaicism in genodermatoses.
Lim YH et al.
Cellular and Molecular Life Sciences : Cmls, 2017
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 et al.
The Journal of Investigative Dermatology, 2006
Atypical epidermolytic palmoplantar keratoderma presentation associated with a mutation in the keratin 1 gene.
Terron-Kwiatkowski A et al.
The British Journal of Dermatology, 2004
Epidermolytic hyperkeratosis and epidermolysis bullosa simplex caused by frameshift mutations altering the v2 tail domains of keratin 1 and keratin 5.
Sprecher E et al.
The Journal of Investigative Dermatology, 2003
Two cases of primarily palmoplantar keratoderma associated with novel mutations in keratin 1.
Terron-Kwiatkowski A et al.
The Journal of Investigative Dermatology, 2002
Frameshift mutation in the V2 domain of human keratin 1 results in striate palmoplantar keratoderma.
Whittock NV et al.
The Journal of Investigative Dermatology, 2002
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