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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Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: Public Library of Science 2014
Matèries:
Research Article
Accés en línia: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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