Xingchao Shentu Qi Miao Xiajing Tang Houfa Yin Yingying Zhao
10.1371/journal.pone.0126679
PLoS One
2015 May 6;10(5):e0126679.
CC BY
https://pubmed.ncbi.nlm.nih.gov/25946197/
Aquaporins / genetics Cataract / congenital Cataract / genetics Eye Proteins / genetics Lens, Crystalline / metabolism
Aquaporins / genetics Cataract / congenital Cataract / genetics Eye Proteins / genetics Lens, Crystalline / metabolism Case Reports Research Support, Non-U.S. Gov't Amino Acid Sequence Amino Acid Substitution / genetics Asian People Blindness / congenital Blindness / genetics Cell Line, Tumor Cell Membrane / metabolism China Female Fluorescent Antibody Technique Genetic Linkage HEK293 Cells Haplotypes HeLa Cells Humans Male Microsatellite Repeats / genetics Middle Aged Mutation, Missense / genetics Protein Structure, Tertiary Protein Transport / genetics Sequence Alignment Aquaporins Eye Proteins aquaporin 0
PMC4422749
25946197
Identification and Functional Analysis of a Novel MIP Gene Mutation Associated with Congenital Cataract in a Chinese Family
2015