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Mutation Screening of Six Exons of ABCA4 in Iranian Stargardt Disease Patients

PURPOSE: Stargardt disease type 1 (STGD1) is a recessively inherited retinal disorder that can cause severe visual impairment. ABCA4 mutations are the usual cause of STGD1. ABCA4 codes a transporter protein exclusively expressed in retinal photoreceptor cells. The genecontains 50 exons. Mutations ar...

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Detalles Bibliográficos
Autores principales: Darbari, Ensieh, Ahmadieh, Hamid, Daftarian, Narsis, Rezaei Kanavi, Mozhgan, Suri, Fatemeh, Sabbaghi, Hamideh, Elahi, Elahe
Formato: Online Artículo Texto
Lenguaje:English
Publicado: PUBLISHED BY KNOWLEDGE E 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8850862/
https://www.ncbi.nlm.nih.gov/pubmed/35194496
http://dx.doi.org/10.18502/jovr.v17i1.10170