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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...
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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2019
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Materias: | |
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 |
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