Early death from cardiomyopathy in a family with autosomal dominant striate palmoplantar keratoderma and woolly hair associated with a novel insertion mutation in desmoplakin.

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Citation

Norgett EE, Lucke TW, Bowers B, Munro CS, Leigh IM, Kelsell DP

Early death from cardiomyopathy in a family with autosomal dominant striate palmoplantar keratoderma and woolly hair associated with a novel insertion mutation in desmoplakin.

J Invest Dermatol. 2006 Jul;126(7):1651-4. Epub 2006 Apr 20.

PubMed ID
16628197 [ View in PubMed
]
Abstract

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DrugBank Data that Cites this Article

Polypeptides
NameUniProt ID
DesmoplakinP15924Details