Heterozygous deep-intronic variants and deletions in ABCA4 in persons with retinal dystrophies and one exonic ABCA4 variant.

Bax, Nathalie M; Sangermano, Riccardo; Roosing, Susanne; Thiadens, Alberta A H J; Hoefsloot, Lies H; van den Born, L Ingeborgh; Phan, Milan; Klevering, B Jeroen; Westeneng-van Haaften, Carla; Braun, Terry A; Zonneveld-Vrieling, Marijke N; de Wijs, Ilse; Mutlu, Merve; Stone, Edwin M; den Hollander, Anneke I; Klaver, Caroline C W; Hoyng, Carel B; Cremers, Frans P M

Bax, Nathalie M; Sangermano, Riccardo; Roosing, Susanne; Thiadens, Alberta A H J; Hoefsloot, Lies H; van den Born, L Ingeborgh; Phan, Milan; Klevering, B Jeroen; Westeneng-van Haaften, Carla; Braun, Terry A; Zonneveld-Vrieling, Marijke N; de Wijs, Ilse; Mutlu, Merve; Stone, Edwin M; den Hollander, Anneke I; Klaver, Caroline C W; Hoyng, Carel B; Cremers, Frans P M.

Affiliation

Bax NM; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands.

Hum Mutat ; 36(1): 43-7, 2015 Jan.

Article in En | MEDLINE | ID: mdl-25363634

Subject(s)

ATP-Binding Cassette Transporters/genetics; Genetic Association Studies/methods; Macular Degeneration/congenital; Retinitis Pigmentosa/genetics; Exons; Female; Genetic Heterogeneity; Genetic Predisposition to Disease; High-Throughput Nucleotide Sequencing; Humans; Introns; Macular Degeneration/genetics; Male; Pedigree; Sequence Analysis, DNA; Sequence Deletion; Stargardt Disease

Key words

ABCA4; STGD1; Stargardt; deep-intronic variants; mutation; retinal dystrophies; splicing

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Full text: 1 Database: MEDLINE Main subject: Retinitis Pigmentosa / ATP-Binding Cassette Transporters / Genetic Association Studies / Macular Degeneration Type of study: Prognostic_studies Limits: Female / Humans / Male Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2015 Type: Article Affiliation country: Netherlands

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