Identification of Inherited Retinal Disease-Associated Genetic Variants in 11 Candidate Genes

Inherited retinal diseases (IRDs) display an enormous genetic heterogeneity. Whole exome sequencing (WES) recently identified genes that were mutated in a small proportion of IRD cases. Consequently, finding a second case or family carrying pathogenic variants in the same candidate gene often is cha...

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Detalles Bibliográficos
Autores principales: Astuti, Galuh D. N., van den Born, L. Ingeborgh, Khan, M. Imran, Hamel, Christian P., Bocquet, Béatrice, Manes, Gaël, Quinodoz, Mathieu, Ali, Manir, Toomes, Carmel, McKibbin, Martin, El-Asrag, Mohammed E., Haer-Wigman, Lonneke, Inglehearn, Chris F., Black, Graeme C. M., Hoyng, Carel B., Cremers, Frans P. M., Roosing, Susanne
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5793174/
https://www.ncbi.nlm.nih.gov/pubmed/29320387
http://dx.doi.org/10.3390/genes9010021

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5793174/
https://www.ncbi.nlm.nih.gov/pubmed/29320387
http://dx.doi.org/10.3390/genes9010021

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