A large deletion in the adRP gene PRPF31: evidence that haploinsufficiency is the cause of disease. | Mol Vis;12: 384-8, 2006 Apr 18. | MEDLINE

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A large deletion in the adRP gene PRPF31: evidence that haploinsufficiency is the cause of disease.

Abu-Safieh, Leen; Vithana, Eranga N; Mantel, Irmela; Holder, Graham E; Pelosini, Lucia; Bird, Alan C; Bhattacharya, Shomi S.

Affiliation

Abu-Safieh L; Institute of Ophthalmology, University College London, London, UK.

Mol Vis ; 12: 384-8, 2006 Apr 18.

Article in En | MEDLINE | ID: mdl-16636657

Subject(s)

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Collection: 01-internacional Database: MEDLINE Main subject: Retinitis Pigmentosa / Gene Deletion / Electron Transport Complex I / Eye Proteins / Genes, Dominant Type of study: Prognostic_studies Limits: Female / Humans / Male Language: En Journal: Mol Vis Journal subject: BIOLOGIA MOLECULAR / OFTALMOLOGIA Year: 2006 Document type: Article Affiliation country: Reino Unido Country of publication: Estados Unidos

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Collection: 01-internacional Database: MEDLINE Main subject: Retinitis Pigmentosa / Gene Deletion / Electron Transport Complex I / Eye Proteins / Genes, Dominant Type of study: Prognostic_studies Limits: Female / Humans / Male Language: En Journal: Mol Vis Journal subject: BIOLOGIA MOLECULAR / OFTALMOLOGIA Year: 2006 Document type: Article Affiliation country: Reino Unido Country of publication: Estados Unidos