Linked Life Data

17325180

Source:http://linkedlifedata.com/resource/pubmed/id/17325180

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pubmed-article:17325180pubmed:abstractTextRetinitis pigmentosa is a clinically and genetically heterogeneous disorder. It is characterized by progressive degeneration of the peripheral retina, leading to night blindness and loss of the peripheral visual field. PRPF31 is one of four pre-mRNA splicing factors identified as causing autosomal dominant retinitis pigmentosa, with incomplete penetrance being the unique feature associated with mutations in this gene. The purpose of this study was to identify PRPF31 mutations in a cohort of 118 cases of autosomal dominant retinitis pigmentosa and determine the genotype-phenotype correlation emerging from the spectrum of mutations in this gene.lld:pubmed
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pubmed-article:17325180pubmed:articleTitleMutations in the gene coding for the pre-mRNA splicing factor, PRPF31, in patients with autosomal dominant retinitis pigmentosa.lld:pubmed
pubmed-article:17325180pubmed:affiliationDepartment of Molecular Genetics, Institute of Ophthalmology, University College London, London, United Kingdom.lld:pubmed
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pubmed-article:17325180pubmed:publicationTypeResearch Support, Non-U.S. Gov'tlld:pubmed
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