Next-generation Sequencing Extends the Phenotypic Spectrum for LCA5 Mutations: Novel LCA5 Mutations in Cone Dystrophy

We aim to characterize the clinical features and genetic causes for two affected siblings from a Chinese family with cone dystrophy (CD). Two patients and four unaffected family members were recruited and received complete ophthalmic examinations. Genomic DNA was isolated from the peripheral blood s...

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Detalles Bibliográficos
Autores principales: Chen, Xue, Sheng, Xunlun, Sun, Xiantao, Zhang, Yuxin, Jiang, Chao, Li, Huiping, Ding, Sijia, Liu, Yani, Liu, Wenzhou, Li, Zili, Zhao, Chen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4828721/
https://www.ncbi.nlm.nih.gov/pubmed/27067258
http://dx.doi.org/10.1038/srep24357

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