Targeted Exome Sequencing of Congenital Cataracts Related Genes: Broadening the Mutation Spectrum and Genotype–Phenotype Correlations in 27 Chinese Han Families

Congenital cataract is the most frequent inherited ocular disorder and the most leading cause of lifelong visual loss. The screening of pathogenic mutations can be very challenging in some cases, for congenital cataracts are clinically and genetically heterogeneous diseases. The aim of this study is...

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Detalles Bibliográficos
Autores principales: Zhai, Yi, Li, Jinyu, Yu, Wangshu, Zhu, Sha, Yu, Yinhui, Wu, Menghan, Sun, Guizhen, Gong, Xiaohua, Yao, Ke
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5430819/
https://www.ncbi.nlm.nih.gov/pubmed/28450710
http://dx.doi.org/10.1038/s41598-017-01182-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5430819/
https://www.ncbi.nlm.nih.gov/pubmed/28450710
http://dx.doi.org/10.1038/s41598-017-01182-9

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