Article
ABCA4 gene screening by next-generation sequencing in a British cohort.
Investigative ophthalmology & visual science - 11 Oct 2013
Fujinami Kaoru, Zernant Jana, Chana Ravinder K, Wright Genevieve A, Tsunoda Kazushige, Ozawa Yoko, Tsubota Kazuo, Webster Andrew R, Moore Anthony T, Allikmets Rando, Michaelides Michel
Abstract excerpt
PURPOSE: We applied a recently reported next-generation sequencing (NGS) strategy for screening the ABCA4 gene in a British cohort with ABCA4-associated disease and report novel mutations. METHODS: We identified 79 patients with a clinical diagnosis of ABCA4-associated disease who had a single variant identified by the ABCA4 microarray. Comprehensive phenotypic data were obtained, and the NGS strategy was applied...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.