ABCA4 c.859-25A>G, a Frequent Palestinian Founder Mutation Affecting the Intron 7 Branchpoint, Is Associated With Early-Onset Stargardt Disease.
Investigative Ophthalmology & Visual Science
Corradi, Zelia Z; Salameh, Manar M; Khan, Mubeen M; Héon, Elise E; Mishra, Ketan K; Hitti-Malin, Rebekkah J RJ; AlSwaiti, Yahya Y; Aslanian, Alice A; Banin, Eyal E; Brooks, Brian P BP; Zein, Wadih M WM; Hufnagel, Robert B RB; Roosing, Susanne S; Dhaenens, Claire-Marie CM; Sharon, Dror D; Cremers, Frans P M FPM; AlTalbishi, Alaa A
Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort-Impact of Selected Deep Intronic Variants and Common SNPs.
Investigative Ophthalmology & Visual Science
Schulz, Heidi L HL; Grassmann, Felix F; Kellner, Ulrich U; Spital, Georg G; Rüther, Klaus K; Jägle, Herbert H; Hufendiek, Karsten K; Rating, Philipp P; Huchzermeyer, Cord C; Baier, Maria J MJ; Weber, Bernhard H F BH; Stöhr, Heidi H