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Analysis of the ABCA4 Gene by Next-Generation Sequencing

PURPOSE. To find all possible disease-associated variants in coding sequences of the ABCA4 gene in a large cohort of patients diagnosed with ABCA4-associated diseases. METHODS. One hundred sixty-eight patients who had been clinically diagnosed with Stargardt disease, cone-rod dystrophy, and other AB...

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Detalhes bibliográficos
Main Authors: Zernant, Jana, Schubert, Carl, Im, Kate M., Burke, Tomas, Brown, Carolyn M., Fishman, Gerald A., Tsang, Stephen H., Gouras, Peter, Dean, Michael, Allikmets, Rando
Formato: Artigo
Idioma:Inglês
Publicado em: Association for Research in Vision and Ophthalmology, Inc. 2011
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3208189/
https://ncbi.nlm.nih.gov/pubmed/21911583
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.11-8182
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