Article
An augmented ABCA4 screen targeting noncoding regions reveals a deep intronic founder variant in Belgian Stargardt patients.
Human mutation - 1 Jan 2015
Bauwens Miriam, De Zaeytijd Julie, Weisschuh Nicole, Kohl Susanne, Meire Françoise, Dahan Karin, Depasse Fanny, De Jaegere Sarah, De Ravel Thomy, De Rademaeker Marjan, Loeys Bart, Coppieters Frauke, Leroy Bart P, De Baere Elfride
Abstract excerpt
Autosomal-recessive Stargardt disease (STGD1) is hallmarked by a large proportion of patients with a single heterozygous causative variant in the disease gene ABCA4. Braun et al. () reported deep intronic variants of ABCA4 in STGD1 patients with one coding variant, prompting us to perform an augmented screen in 131 Belgian STGD1 patients with one or no ABCA4 variant to uncover deep intronic causal ABCA4 variants....
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