A novel ABCR nonsense mutation responsible for late-onset fundus flavimaculatus.

Souied, E H; Ducroq, D; Rozet, J M; Gerber, S; Perrault, I; Sterkers, M; Benhamou, N; Munnich, A; Coscas, G; Soubrane, G; Kaplan, J

Souied, E H; Ducroq, D; Rozet, J M; Gerber, S; Perrault, I; Sterkers, M; Benhamou, N; Munnich, A; Coscas, G; Soubrane, G; Kaplan, J.

Affiliation

Souied EH; Institut National de la Santé et de la Recherche Médicale U-393, Hôpital des Enfants-Malades, Paris, France.

Invest Ophthalmol Vis Sci ; 40(11): 2740-4, 1999 Oct.

Article in En | MEDLINE | ID: mdl-10509673

Subject(s)

ATP-Binding Cassette Transporters/genetics; Macular Degeneration/genetics; Mutation; Rod Cell Outer Segment/pathology; Age of Onset; Aged; Codon, Terminator/genetics; DNA Mutational Analysis; DNA Primers/chemistry; Fluorescein Angiography; Fundus Oculi; Humans; Indocyanine Green; Macular Degeneration/diagnosis; Male; Polymorphism, Single-Stranded Conformational

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Collection: 01-internacional Database: MEDLINE Main subject: Rod Cell Outer Segment / ATP-Binding Cassette Transporters / Macular Degeneration / Mutation Type of study: Diagnostic_studies / Prognostic_studies Limits: Aged / Humans / Male Language: En Journal: Invest Ophthalmol Vis Sci Year: 1999 Type: Article Affiliation country: France

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