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

Liu, Jing Yu; Dai, Xiaohua; Sheng, Jiqun; Cui, Xin; Wang, Xu; Jiang, Xueqing; Tu, Xin; Tang, Zhaohui; Bai, Yan; Liu, Mugen; Wang, Qing K

Liu, Jing Yu; Dai, Xiaohua; Sheng, Jiqun; Cui, Xin; Wang, Xu; Jiang, Xueqing; Tu, Xin; Tang, Zhaohui; Bai, Yan; Liu, Mugen; Wang, Qing K.

Affiliation

Liu JY; Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology, Center for Human Genome Research, Huazhong University of Science and Technology, 1037 Luoyu Road, Wuhan 430074, PR China.

Biochem Biophys Res Commun ; 367(2): 420-6, 2008 Mar 07.

Article in En | MEDLINE | ID: mdl-18177735

Subject(s)

Chromosome Disorders/genetics; Eye Proteins/genetics; Polymorphism, Single Nucleotide/genetics; Protein Splicing/genetics; Retinitis Pigmentosa/genetics; DNA Mutational Analysis; Genetic Predisposition to Disease/genetics; Heterozygote; Humans; Pedigree

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Retinitis Pigmentosa / Protein Splicing / Chromosome Disorders / Polymorphism, Single Nucleotide / Eye Proteins Type of study: Diagnostic_studies Limits: Humans Language: En Journal: Biochem Biophys Res Commun Year: 2008 Document type: Article Country of publication: United States

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