Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa.

Collin, Rob W J; Littink, Karin W; Klevering, B Jeroen; van den Born, L Ingeborgh; Koenekoop, Robert K; Zonneveld, Marijke N; Blokland, Ellen A W; Strom, Tim M; Hoyng, Carel B; den Hollander, Anneke I; Cremers, Frans P M

Collin, Rob W J; Littink, Karin W; Klevering, B Jeroen; van den Born, L Ingeborgh; Koenekoop, Robert K; Zonneveld, Marijke N; Blokland, Ellen A W; Strom, Tim M; Hoyng, Carel B; den Hollander, Anneke I; Cremers, Frans P M.

Affiliation

Collin RW; Department of Human Genetics, Radboud University Nijmegen Medical Centre, 6525 GA Nijmegen, the Netherlands. r.collin@antrg.umcn.nl

Am J Hum Genet ; 83(5): 594-603, 2008 Nov.

Article in En | MEDLINE | ID: mdl-18976725

Subject(s)

Drosophila Proteins/genetics; Drosophila/genetics; Eye Proteins/genetics; Mutation; Retinitis Pigmentosa/genetics; Amino Acid Sequence; Amino Acid Substitution; Animals; Case-Control Studies; Chromosome Mapping; Chromosomes, Human, Pair 6; Codon, Nonsense; DNA Mutational Analysis; Electroretinography; Exons; Female; Frameshift Mutation; Genes, Recessive; Homozygote; Humans; Male; Molecular Sequence Data; Pedigree; Polymorphism, Single Nucleotide; Protein Structure, Tertiary; RNA, Messenger/metabolism; Sequence Homology, Amino Acid; Siblings

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Full text: 1 Database: MEDLINE Main subject: Retinitis Pigmentosa / Drosophila Proteins / Drosophila / Eye Proteins / Mutation Type of study: Diagnostic_studies / Observational_studies / Risk_factors_studies Limits: Animals / Female / Humans / Male Language: En Year: 2008 Type: Article

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