Identification of a novel MIP frameshift mutation associated with congenital cataract in a Chinese family by whole-exome sequencing and functional analysis

PURPOSE: To detect the underlying pathogenesis of congenital cataract in a four-generation Chinese family. METHODS: Whole-exome sequencing (WES) of family members (III:4, IV:4, and IV:6) was performed. Sanger sequencing and bioinformatics analysis were subsequently conducted. Full-length WT-MIP or K...

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Detalles Bibliográficos
Autores principales: Long, Xigui, Huang, Yanru, Tan, Hu, Li, Zhuo, Zhang, Rui, Linpeng, Siyuan, Lv, Weigang, Cao, Yingxi, Li, Haoxian, Liang, Desheng, Wu, Lingqian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6085365/
https://www.ncbi.nlm.nih.gov/pubmed/29695758
http://dx.doi.org/10.1038/s41433-018-0084-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6085365/
https://www.ncbi.nlm.nih.gov/pubmed/29695758
http://dx.doi.org/10.1038/s41433-018-0084-5

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