Exome Sequencing of 47 Chinese Families with Cone-Rod Dystrophy: Mutations in 25 Known Causative Genes

OBJECTIVE: The goal of this study was to identify mutations in 25 known causative genes in 47 unrelated Chinese families with cone-rod dystrophy (CORD). METHODS: Forty-seven probands from unrelated families with CORD were recruited. Genomic DNA prepared from leukocytes was analyzed by whole exome se...

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Detalles Bibliográficos
Autores principales: Huang, Li, Zhang, Qingyan, Li, Shiqiang, Guan, Liping, Xiao, Xueshan, Zhang, Jianguo, Jia, Xiaoyun, Sun, Wenmin, Zhu, Zhihong, Gao, Yang, Yin, Ye, Wang, Panfeng, Guo, Xiangming, Wang, Jun, Zhang, Qingjiong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3679152/
https://www.ncbi.nlm.nih.gov/pubmed/23776498
http://dx.doi.org/10.1371/journal.pone.0065546

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