Skip to Main content Skip to Navigation
Journal articles

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.
Document type :
Journal articles
Complete list of metadatas

Cited literature [10 references]  Display  Hide  Download

https://hal-pasteur.archives-ouvertes.fr/pasteur-00174726
Contributor : Hélène Ribierre <>
Submitted on : Tuesday, September 25, 2007 - 10:29:57 AM
Last modification on : Wednesday, September 30, 2020 - 1:28:02 PM
Long-term archiving on: : Friday, November 25, 2016 - 6:46:19 PM

File

 Restricted access
To satisfy the distribution rights of the publisher, the document is embargoed until : jamais

Please log in to resquest access to the document

Identifiers

Collections

Citation

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⟩

Share

Metrics

Record views

330