Cost-effective molecular inversion probe-based ABCA4 sequencing reveals deep-intronic variants in Stargardt disease.
Mubeen KhanStéphanie S CornelisMuhammad Imran KhanDuaa ElmelikEline MandersSem BakkerRonny DerksKornelia NevelingMaartje van de VorstChristian GilissenIsabelle MeunierSabine DefoortBernard PuechAurore DevosHeidi L SchulzHeidi StöhrFelix GrassmannBernhard H F WeberClaire-Marie DhaenensFrans P M CremersPublished in: Human mutation (2019)
smMIPs-based sequence analysis of coding and selected noncoding regions of ABCA4 enabled cost-effective mutation detection in STGD1 cases in previously unsolved cases.