Cargando…
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...
Autores principales: | , , , , , , |
---|---|
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 |