A Novel PRPF31 Mutation in a Large Chinese Family with Autosomal Dominant Retinitis Pigmentosa and Macular Degeneration

PURPOSE: This study was intended to identify the disease causing genes in a large Chinese family with autosomal dominant retinitis pigmentosa and macular degeneration. METHODS: A genome scan analysis was conducted in this family for disease gene preliminary mapping. Snapshot analysis of selected SNP...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Lu, Fang, Huang, Lulin, Lei, Chuntao, Sha, Guiquan, Zheng, Hong, Liu, Xiaoqi, Yang, Jiyun, Shi, Yi, Lin, Ying, Gong, Bo, Zhu, Xianjun, Ma, Shi, Qiao, Lifeng, Lin, He, Cheng, Jing, Yang, Zhenglin
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Public Library of Science 2013
Gaiak:
Research Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC3823919/
https://ncbi.nlm.nih.gov/pubmed/24244300
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0078274
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