Article
Targeted exon sequencing in Usher syndrome type I.
Investigative ophthalmology & visual science - 2 Dec 2014
Bujakowska Kinga M, Consugar Mark, Place Emily, Harper Shyana, Lena Jaclyn, Taub Daniel G, White Joseph, Navarro-Gomez Daniel, Weigel DiFranco Carol, Farkas Michael H, Gai Xiaowu, Berson Eliot L, Pierce Eric A
Abstract excerpt
PURPOSE: Patients with Usher syndrome type I (USH1) have retinitis pigmentosa, profound congenital hearing loss, and vestibular ataxia. This syndrome is currently thought to be associated with at least six genes, which are encoded by over 180 exons. Here, we present the use of state-of-the-art techniques in the molecular diagnosis of a cohort of 47 USH1 probands. METHODS: The cohort was studied with selective...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.