Combinational analysis of linkage and exome sequencing identifies the causative mutation in a Chinese family with congenital cataract

BACKGROUND: Congenital cataract is a Mendelian disorder that frequently causes blindness in infants. To date, various cataract-associated loci have been mapped; more than 30 genes have been identified by linkage analysis. However, the pathogenic loci in some affected families are still unknown, and...

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Autores principales: Jia, Xueyuan, Zhang, Feng, Bai, Jing, Gao, Linghan, Zhang, Xuelong, Sun, Haiming, Sun, Donglin, Guan, Rongwei, Sun, Wenjing, Xu, Lidan, Yue, Zhichao, Yu, Yang, Fu, Songbin
Formato: Artigo
Lenguaje:Inglês
Publicado: BioMed Central 2013
Materias:
Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3851584/
https://ncbi.nlm.nih.gov/pubmed/24103489
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-14-107
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