Detailed Phenotyping and Therapeutic Strategies for Intronic ABCA4 Variants in Stargardt Disease

• Main Authors: Mubeen Khan (Author), Gavin Arno (Author), Ana Fakin (Author), David A. Parfitt (Author), Patty P.A. Dhooge (Author), Silvia Albert (Author), Nathalie M. Bax (Author), Lonneke Duijkers (Author), Michael Niblock (Author), Kwan L. Hau (Author), Edward Bloch (Author), Elena R. Schiff (Author), Davide Piccolo (Author), Michael C. Hogden (Author), Carel B. Hoyng (Author), Andrew R. Webster (Author), Frans P.M. Cremers (Author), Michael E. Cheetham (Author), Alejandro Garanto (Author), Rob W.J. Collin (Author)
• Format: Book
• Published: Elsevier, 2020-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Stargardt disease is a progressive retinal disorder caused by bi-allelic mutations in the ABCA4 gene that encodes the ATP-binding cassette, subfamily A, member 4 transporter protein. Over the past few years, we and others have identified several pathogenic variants that reside within the introns of...