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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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Detalles Bibliográficos
Autores principales:	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:	Online Artículo Texto
Lenguaje:	English
Publicado:	Portland Press Ltd. 2020
Materias:	Molecular Bases of Health & Disease
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6974426/ https://www.ncbi.nlm.nih.gov/pubmed/31904091 http://dx.doi.org/10.1042/BSR20193536

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