Identification and functional characterization of a novel splicing mutation in RP gene PRPF31

A six-generation Chinese family with autosomal dominant retinitis pigmentosa (adRP) was identified and characterized. Genome-wide linkage analysis linked the family to markers D19S601 to D19S605, which span the PRPF31 gene on chromosome 19q13.33–13.43 (RP11) (LOD = 5.03). Direct DNA sequence analysi...

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Main Authors: Liu, Jingyu, Dai, Xiaohua, Wang, Xu, Cui, Xin, Sheng, Jiqun, Jiang, Xueqing, Tu, Xin, Tang, Zhaohui, Bai, Yan, Liu, Mugen, Wang, Qing K.
Format: Artigo
Jezik:Inglês
Izdano: 2008
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Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC2712755/
https://ncbi.nlm.nih.gov/pubmed/18177735
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bbrc.2007.12.156
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