ABCA4 Gene Screening by Next-Generation Sequencing in a British Cohort

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 varia...

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Detalhes bibliográficos
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: The Association for Research in Vision and Ophthalmology 2013
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3796939/
https://ncbi.nlm.nih.gov/pubmed/23982839
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.13-12570
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