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A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness.
de Zwart-Storm, E A; Hamm, H; Stoevesandt, J; Steijlen, P M; Martin, P E; van Geel, M; van Steensel, M A M.
J Med Genet ; 45(3): 161-6, 2008 Mar.
Article in En | MEDLINE | ID: mdl-17993581
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Collection: 01-internacional Database: MEDLINE Main subject: Keratoderma, Palmoplantar / Connexins / Mutation, Missense / Hearing Loss, Sensorineural Type of study: Etiology_studies Limits: Adult / Female / Humans / Male Language: En Journal: J Med Genet Year: 2008 Document type: Article Country of publication: Reino Unido
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Collection: 01-internacional Database: MEDLINE Main subject: Keratoderma, Palmoplantar / Connexins / Mutation, Missense / Hearing Loss, Sensorineural Type of study: Etiology_studies Limits: Adult / Female / Humans / Male Language: En Journal: J Med Genet Year: 2008 Document type: Article Country of publication: Reino Unido