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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4136783/
https://www.ncbi.nlm.nih.gov/pubmed/25133751
http://dx.doi.org/10.1371/journal.pone.0104281

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4136783/
https://www.ncbi.nlm.nih.gov/pubmed/25133751
http://dx.doi.org/10.1371/journal.pone.0104281

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