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Targeted Next-generation Sequencing Reveals Novel EYS Mutations in Chinese Families with Autosomal Recessive Retinitis Pigmentosa

EYS mutations demonstrate great genotypic and phenotypic varieties, and are one of the major causes for patients with autosomal recessive retinitis pigmentosa (ARRP). Here, we aim to determine the genetic lesions with phenotypic correlations in two Chinese families with ARRP. Medical histories and o...

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Detalhes bibliográficos
Publicado no:Sci Rep
Main Authors: Chen, Xue, Liu, Xiaoxing, Sheng, Xunlun, Gao, Xiang, Zhang, Xiumei, Li, Zili, Li, Huiping, Liu, Yani, Rong, Weining, Zhao, Kanxing, Zhao, Chen
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2015
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4354143/
https://ncbi.nlm.nih.gov/pubmed/25753737
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep08927
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