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Nat Genet. 2002 Dec;32(4):579-81. Epub 2002 Nov 11.

Mutations in two adjacent novel genes are associated with epidermodysplasia verruciformis.

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  • 1Unité des Papillomavirus, Institut Pasteur, 25 rue du Docteur Roux, 75724 Paris Cedex 15, France.

Abstract

Epidermodysplasia verruciformis (OMIM 226400) is a rare autosomal recessive genodermatosis associated with a high risk of skin carcinoma that results from an abnormal susceptibility to infection by specific human papillomaviruses (HPVs). We recently mapped a susceptibility locus for epidermodysplasia verruciformis (EV1) to chromosome 17q25. Here we report the identification of nonsense mutations in two adjacent novel genes, EVER1 and EVER2, that are associated with the disease. The gene products EVER1 and EVER2 have features of integral membrane proteins and are localized in the endoplasmic reticulum.

PMID:
12426567
[PubMed - indexed for MEDLINE]

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