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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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Kaydedildi:
Detaylı Bibliyografya
Yayımlandı:Sci Rep
Asıl Yazarlar: Chen, Xue, Liu, Xiaoxing, Sheng, Xunlun, Gao, Xiang, Zhang, Xiumei, Li, Zili, Li, Huiping, Liu, Yani, Rong, Weining, Zhao, Kanxing, Zhao, Chen
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Nature Publishing Group 2015
Konular:
Online Erişim: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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