X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene.

Jalkanen, R; Mäntyjärvi, M; Tobias, R; Isosomppi, J; Sankila, E-M; Alitalo, T; Bech-Hansen, N T

Jalkanen, R; Mäntyjärvi, M; Tobias, R; Isosomppi, J; Sankila, E-M; Alitalo, T; Bech-Hansen, N T.

J Med Genet ; 43(8): 699-704, 2006 Aug.

Article in En | MEDLINE | ID: mdl-16505158

Subject(s)

Calcium Channels, L-Type/genetics; Genetic Diseases, X-Linked/genetics; Mutation/genetics; Retinitis Pigmentosa/genetics; Adult; Case-Control Studies; Child; DNA Mutational Analysis; Exons/genetics; Female; Humans; Male; RNA, Messenger/genetics; RNA, Messenger/metabolism

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Retinitis Pigmentosa / Calcium Channels, L-Type / Genetic Diseases, X-Linked / Mutation Type of study: Observational_studies / Risk_factors_studies Limits: Adult / Child / Female / Humans / Male Language: En Journal: J Med Genet Year: 2006 Document type: Article Country of publication: United kingdom

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