Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt Disease.
American Journal Of Human Genetics
Albert, Silvia S; Garanto, Alejandro A; Sangermano, Riccardo R; Khan, Mubeen M; Bax, Nathalie M NM; Hoyng, Carel B CB; Zernant, Jana J; Lee, Winston W; Allikmets, Rando R; Collin, Rob W J RWJ; Cremers, Frans P M FPM
ABCA4 midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease.
Genome Research
Sangermano, Riccardo R; Khan, Mubeen M; Cornelis, Stéphanie S SS; Richelle, Valerie V; Albert, Silvia S; Garanto, Alejandro A; Elmelik, Duaa D; Qamar, Raheel R; Lugtenberg, Dorien D; van den Born, L Ingeborgh LI; Collin, Rob W J RWJ; Cremers, Frans P M FPM