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
Publication Date: 2018-04-05
Variant appearance in text: ABCA4: Val2050_Gln2243del