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Two Pathogenic Gene Mutations Identified Associating with Congenital Cataract and Iris Coloboma Respectively in a Chinese Family

PURPOSE: To screen out pathogenic genes in a Chinese family with congenital cataract and iris coloboma. Material and Methods. A three-generation family with congenital cataract and iris coloboma from a Han ethnicity was recruited. DNA was extracted from peripheral blood samples collected from all in...

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Detalles Bibliográficos
Autores principales: Li, Bin, Lu, Bin, Guo, Xuewen, Hu, Shenghui, Zhao, Guihu, Huang, Weihong, Hu, Jianzhong, Song, Kun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7049832/
https://www.ncbi.nlm.nih.gov/pubmed/32148946
http://dx.doi.org/10.1155/2020/7054315