1. ATP‐binding cassette subfamily A, member 4 intronic variants c.4773+3A>G and c.5461‐10T>C cause Stargardt disease due to defective splicing. Issue 7 (20th February 2018) Authors: Jonsson, Frida; Westin, Ida Maria; Österman, Lennart; Sandgren, Ola; Burstedt, Marie; Holmberg, Monica; Golovleva, Irina Journal: Acta ophthalmologica Issue: Volume 96:Issue 7(2018) Page Start: 737 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. TCF4 trinucleotide repeat expansion in Swedish cases with Fuchs' endothelial corneal dystrophy. Issue 5 (13th October 2021) Authors: Viberg, Andreas; Westin, Ida Maria; Golovleva, Irina; Byström, Berit Journal: Acta ophthalmologica Issue: Volume 100:Issue 5(2022) Page Start: 541 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗