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Identification and Functional Analysis of a Novel MIP Gene Mutation Associated with Congenital Cataract in a Chinese Family

Congenital cataracts are major cause of visual impairment and blindness in children and previous studies have shown about 1/3 of non-syndromic congenital cataracts are inherited. Major intrinsic protein of the lens (MIP), also known as AQP0, plays a critical role in transparency and development of t...

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Detalles Bibliográficos
Autores principales: Shentu, Xingchao, Miao, Qi, Tang, Xiajing, Yin, Houfa, Zhao, Yingying
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4422749/
https://www.ncbi.nlm.nih.gov/pubmed/25946197
http://dx.doi.org/10.1371/journal.pone.0126679