Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy

Inherited retinal diseases (IRDs) are a common cause of visual impairment. IRD covers a set of genetically highly heterogeneous disorders with more than 150 genes associated with one or more clinical forms of IRD. Molecular genetic diagnosis has become increasingly important especially due to expand...

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Detalles Bibliográficos
Autores principales: Jespersgaard, Cathrine, Fang, Mingyan, Bertelsen, Mette, Dang, Xiao, Jensen, Hanne, Chen, Yulan, Bech, Niels, Dai, Lanlan, Rosenberg, Thomas, Zhang, Jianguo, Møller, Lisbeth Birk, Tümer, Zeynep, Brøndum-Nielsen, Karen, Grønskov, Karen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6362094/
https://www.ncbi.nlm.nih.gov/pubmed/30718709
http://dx.doi.org/10.1038/s41598-018-38007-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6362094/
https://www.ncbi.nlm.nih.gov/pubmed/30718709
http://dx.doi.org/10.1038/s41598-018-38007-2

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