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ADVIRC is caused by distinct mutations in BEST1 that alter pre-mRNA splicing.
Burgess, R; MacLaren, R E; Davidson, A E; Urquhart, J E; Holder, G E; Robson, A G; Moore, A T; Keefe, R O'; Black, G C M; Manson, F D C.
J Med Genet ; 46(9): 620-5, 2009 Sep.
Article in En | MEDLINE | ID: mdl-18611979
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Retinal Diseases / Choroid Diseases / RNA Splicing / Chloride Channels / Eye Proteins / Mutation Limits: Adult / Female / Humans / Male / Middle aged Language: En Journal: J Med Genet Year: 2009 Document type: Article Country of publication: Reino Unido
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Retinal Diseases / Choroid Diseases / RNA Splicing / Chloride Channels / Eye Proteins / Mutation Limits: Adult / Female / Humans / Male / Middle aged Language: En Journal: J Med Genet Year: 2009 Document type: Article Country of publication: Reino Unido