Mutation Screening of Retinal Dystrophy Patients by Targeted Capture from Tagged Pooled DNAs and Next Generation Sequencing

PURPOSE: Retinal dystrophies are genetically heterogeneous, resulting from mutations in over 200 genes. Prior to the development of massively parallel sequencing, comprehensive genetic screening was unobtainable for most patients. Identifying the causative genetic mutation facilitates genetic counse...

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Main Authors: Watson, Christopher M., El-Asrag, Mohammed, Parry, David A., Morgan, Joanne E., Logan, Clare V., Carr, Ian M., Sheridan, Eamonn, Charlton, Ruth, Johnson, Colin A., Taylor, Graham, Toomes, Carmel, McKibbin, Martin, Inglehearn, Chris F., Ali, Manir
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2014
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Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4136783/
https://ncbi.nlm.nih.gov/pubmed/25133751
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0104281
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