Article
Screen of the IMPDH1 gene among patients with dominant retinitis pigmentosa and clinical features associated with the most common mutation, Asp226Asn.
Investigative ophthalmology & visual science - 1 May 2005
Wada Yuko, Sandberg Michael A, McGee Terri L, Stillberger Melissa A, Berson Eliot L, Dryja Thaddeus P
Abstract excerpt
PURPOSE: To determine the frequency of mutations in IMPDH1 among patients with autosomal dominant retinitis pigmentosa (RP), to characterize the clinical features of patients with the Asp226Asn mutation in this gene, and to compare these features with those found among patients with selected dominant mutations in other RP genes. METHODS: The coding sequence and the adjacent flanking intron sequences of all 14...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.