Article
Genetic Spectrum of ABCA4-Associated Retinal Degeneration in Poland.
Genes - 21 Nov 2019
Tracewska Anna M, Kocyła-Karczmarewicz Beata, Rafalska Agnieszka, Murawska Joanna, Jakubaszko-Jablonska Joanna, Rydzanicz Małgorzata, Stawiński Piotr, Ciara Elżbieta, Khan Muhammad Imran, Henkes Arjen, Hoischen Alexander, Gilissen Christian, van de Vorst Maartje, Cremers Frans P M, Płoski Rafał, Chrzanowska Krystyna H
Abstract excerpt
Mutations in retina-specific ATP-binding cassette transporter 4 (ABCA4) are responsible for over 95% of cases of Stargardt disease (STGD), as well as a minor proportion of retinitis pigmentosa (RP) and cone-rod dystrophy cases (CRD). Since the knowledge of the genetic causes of inherited retinal diseases (IRDs) in Poland is still scarce, the purpose of this study was to identify pathogenic ABCA4 variants in a...
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