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Article

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

Biochemical and biophysical research communications - 7 Mar 2008

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

Abstract excerpt

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 analysis identified a novel splicing mutation (IVS1+1G>T) in affected family members and carriers, but not in unaffected...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 18177735
DOI: 10.1016/j.bbrc.2007.12.156
PMCID: PMC2712755

Genes

PRPF31

Provenance

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Identification and functional characterization of a novel splicing mutation in RP gene PRPF31.PMID 18177735Read ↗

A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11).Semantic proximity Read ↗

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