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Novel compound heterozygous EYS variants may be associated with arRP in a large Chinese pedigree

As a genetically heterogeneous ocular dystrophy, gene mutations with autosomal recessive retinitis pigmentosa (arRP) in patients have not been well described. We aimed to detect the disease-causing genes and variants in a Chinese arRP family. In the present study, a large Chinese pedigree consisting...

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Detalles Bibliográficos
Autores principales:	Wei, Chunli, Xiao, Ting, Cheng, Jingliang, Fu, Jiewen, Zhou, Qi, Yang, Lisha, Lv, Hongbin, Fu, Junjiang
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Portland Press Ltd. 2020
Materias:	Diagnostics & Biomarkers
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7268256/ https://www.ncbi.nlm.nih.gov/pubmed/32436957 http://dx.doi.org/10.1042/BSR20193443

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