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

Biochemical and Biophysical Research Communications

Volumn 367, Issue 2, 2008, Pages 420-426

  Liu, Jing Yu ^a   Dai, Xiaohua ^a   Sheng, Jiqun ^a   Cui, Xin ^b   Wang, Xu ^a   Jiang, Xueqing ^a   Tu, Xin ^a   Tang, Zhaohui ^a   Bai, Yan ^c   Liu, Mugen ^a   Wang, Qing K ^a,d  

^a HUAZHONG UNIVERSITY OF SCIENCE AND TECHNOLOGY   (China)

^b Maternal and Child Health Clinic of Tanghe   (China)

^c Nanyang Central Hospital   (China)

^d LERNER RESEARCH INSTITUTE   (United States)

Author keywords

Autosomal dominant retinitis pigmentosa; Genetics; Linkage; PRPF31; Splicing mutation

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHROMOSOME 19Q; CLINICAL ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; GENE; GENE IDENTIFICATION; GENE MUTATION; HAPLOTYPE; HUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PRPF31 GENE; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RETINITIS PIGMENTOSA; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING;

CHROMOSOME DISORDERS; DNA MUTATIONAL ANALYSIS; EYE PROTEINS; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE; HUMANS; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN SPLICING; RETINITIS PIGMENTOSA;

EID: 38349043678     PISSN: 0006291X     EISSN: 10902104     Source Type: Journal    
DOI: 10.1016/j.bbrc.2007.12.156     Document Type: Article

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