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Phenotypic diversity in autosomal-dominant cone-rod dystrophy elucidated by adaptive optics retinal imaging

PURPOSE: Several genes causing autosomal-dominant cone-rod dystrophy (AD-CRD) have been identified. However, the mechanisms by which genetic mutations lead to cellular loss in human disease remain poorly understood. Here we combine genotyping with high-resolution adaptive optics retinal imaging to e...

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Detalles Bibliográficos
Autores principales:	Song, Hongxin, Rossi, Ethan A, Stone, Edwin, Latchney, Lisa, Williams, David, Dubra, Alfredo, Chung, Mina
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BMJ Publishing Group 2018
Materias:	Laboratory Science
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5754866/ https://www.ncbi.nlm.nih.gov/pubmed/29074494 http://dx.doi.org/10.1136/bjophthalmol-2017-310498

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