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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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Библиографические подробности
Опубликовано в: :Biosci Rep
Главные авторы: Wei, Chunli, Xiao, Ting, Cheng, Jingliang, Fu, Jiewen, Zhou, Qi, Yang, Lisha, Lv, Hongbin, Fu, Junjiang
Формат: Artigo
Язык:Inglês
Опубликовано: Portland Press Ltd. 2020
Предметы:
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC7268256/
https://ncbi.nlm.nih.gov/pubmed/32436957
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1042/BSR20193443
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