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Mutations in the desmoglein 1 gene in five Pakistani families with striate palmoplantar keratoderma

BACKGROUND: Striate palmoplantar keratoderma (SPPK; OMIM #148700) is a rare autosomal dominant genodermatosis characterized by linear hyperkeratosis on the digits and hyperkeratosis on the palms and soles. SPPK is known to be caused by heterozygous mutations in either the desmoglein 1 (DSG1), desmop...

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Detalhes bibliográficos
Main Authors: Dua-Awereh, Martha B., Shimomura, Yutaka, Kraemer, Liv, Wajid, Muhammad, Christiano, Angela M.
Formato: Artigo
Idioma:Inglês
Publicado em: 2009
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3986861/
https://ncbi.nlm.nih.gov/pubmed/19157795
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jdermsci.2008.11.005
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