Genetic Spectrum of ABCA4-Associated Retinal Degeneration in Poland

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 dis...

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Detalhes bibliográficos
Publicado no:Genes (Basel)
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2019
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6947411/
https://ncbi.nlm.nih.gov/pubmed/31766579
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes10120959
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