Article
Heterozygous deep-intronic variants and deletions in ABCA4 in persons with retinal dystrophies and one exonic ABCA4 variant.
Human mutation - 1 Jan 2015
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
Abstract excerpt
Variants in ABCA4 are responsible for autosomal-recessive Stargardt disease and cone-rod dystrophy. Sequence analysis of ABCA4 exons previously revealed one causative variant in each of 45 probands. To identify the "missing" variants in these cases, we performed multiplex ligation-dependent probe amplification-based deletion scanning of ABCA4. In addition, we sequenced the promoter region, fragments containing...
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