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

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.
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Contributor : Hélène Ribierre Connect in order to contact the contributor
Submitted on : Tuesday, September 25, 2007 - 10:29:57 AM
Last modification on : Thursday, April 7, 2022 - 10:10:20 AM
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Nicolas Ramoz, Luis-Alfredo Rueda, Bakar Bouadjar, Luz-Stella Montoya, Gérard Orth, et al.. Mutations in two adjacent novel genes are associated with epidermodysplasia verruciformis.. Nature Genetics, Nature Publishing Group, 2002, 32 (4), pp.579-81. ⟨10.1038/ng1044⟩. ⟨pasteur-00174726⟩



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