Article
Prognosis for splicing factor PRPF8 retinitis pigmentosa, novel mutations and correlation between human and yeast phenotypes.
Human mutation - 1 May 2010
Towns Katherine V, Kipioti Athina, Long Vernon, McKibbin Martin, Maubaret Cecilia, Vaclavik Veronika, Ehsani Parastoo, Springell Kelly, Kamal Mohammed, Ramesar Raj S, Mackey David A, Moore Anthony T, Mukhopadhyay Rajarshi, Webster Andrew R, Black Graeme C M, O'Sullivan James, Bhattacharya Shomi S, Pierce Eric A, Beggs Jean D, Inglehearn Chris F
Abstract excerpt
PRPF8-retinitis pigmentosa is said to be severe but there has been no overview of phenotype across different mutations. We screened RP patients for PRPF8 mutations and identified three new missense mutations, including the first documented mutation outside exon 42 and the first de novo mutation. This brings the known RP-causing mutations in PRPF8 to nineteen. We then collated clinical data from new and published...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.