Molecular Analysis of the ABCA4 Gene Mutations in Patients with Stargardt Disease Using Human Hair Follicles

ABCA4 gene mutations are the cause of a spectrum of ABCA4 retinopathies, and the most common juvenile macular degeneration is called Stargardt disease. ABCA4 has previously been observed almost exclusively in the retina. Therefore, studying the functional consequences of ABCA4 variants has required...

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Detalles Bibliográficos
Autores principales: Ścieżyńska, Aneta, Soszyńska, Marta, Komorowski, Michał, Podgórska, Anna, Krześniak, Natalia, Nogowska, Aleksandra, Smolińska, Martyna, Szulborski, Kamil, Szaflik, Jacek P., Noszczyk, Bartłomiej, Ołdak, Monika, Malejczyk, Jacek
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7279462/
https://www.ncbi.nlm.nih.gov/pubmed/32413971
http://dx.doi.org/10.3390/ijms21103430

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