An intronic deletion in the PROM1 gene leads to autosomal recessive cone-rod dystrophy

PURPOSE: To investigate the genetic basis for autosomal recessive cone-rod dystrophy (CRD) in a consanguineous Israeli Jewish family. METHODS: Patients underwent a detailed ophthalmic evaluation, including eye examination, visual field testing, optical coherence tomography (OCT), and electrophysiolo...

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Publicado en:Mol Vis
Autores principales: Eidinger, Osnat, Leibu, Rina, Newman, Hadas, Rizel, Leah, Perlman, Ido, Ben-Yosef, Tamar
Formato: Artigo
Lenguaje:Inglês
Publicado: Molecular Vision 2015
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Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4676936/
https://ncbi.nlm.nih.gov/pubmed/26702251
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