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Identification of 13 novel USH2A mutations in Chinese retinitis pigmentosa and Usher syndrome patients by targeted next-generation sequencing

Background: The USH2A gene encodes usherin, a basement membrane protein that is involved in the development and homeostasis of the inner ear and retina. Mutations in USH2A are linked to Usher syndrome type II (USH II) and non-syndromic retinitis pigmentosa (RP). Molecular diagnosis can provide insig...

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Detalhes bibliográficos
Publicado no:Biosci Rep
Main Authors: Qu, Ling-hui, Jin, Xin, Long, Yan-ling, Ren, Jia-yun, Weng, Chuang-huang, Xu, Hai-wei, Liu, Yong, Meng, Xiao-hong, Li, Shi-ying, Yin, Zheng-qin
Formato: Artigo
Idioma:Inglês
Publicado em: Portland Press Ltd. 2020
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6974426/
https://ncbi.nlm.nih.gov/pubmed/31904091
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1042/BSR20193536
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