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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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Detaylı Bibliyografya
Asıl Yazarlar: Dua-Awereh, Martha B., Shimomura, Yutaka, Kraemer, Liv, Wajid, Muhammad, Christiano, Angela M.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2009
Konular:
Online Erişim: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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