Riccardo Sangermano Mubeen Khan Stéphanie S Cornelis Valerie Richelle Silvia Albert Alejandro Garanto Duaa Elmelik Raheel Qamar Dorien Lugtenberg L Ingeborgh van den Born Rob W J Collin Frans P M Cremers
10.1101/gr.226621.117
Genome Res
2018 Jan;28(1):100-110.
CC BY-NC
https://pubmed.ncbi.nlm.nih.gov/29162642/
ATP-Binding Cassette Transporters / genetics Macular Degeneration / congenital RNA Precursors / genetics RNA Splice Sites RNA Splicing
ATP-Binding Cassette Transporters / genetics Macular Degeneration / congenital RNA Precursors / genetics RNA Splice Sites RNA Splicing Case Reports Research Support, Non-U.S. Gov't ATP-Binding Cassette Transporters / biosynthesis Adult Female Humans Macular Degeneration / genetics Macular Degeneration / metabolism Male RNA Precursors / metabolism Stargardt Disease ABCA4 protein, human ATP-Binding Cassette Transporters RNA Precursors RNA Splice Sites Stargardt disease 1
PMC5749174
29162642
ABCA4 midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease
2018