Satoshi Kawasaki Kenta Yamasaki Hiroko Nakagawa Katsuhiko Shinomiya Mina Nakatsukasa Yoshihide Nakai Shigeru Kinoshita
Mol Vis
2012;18:2954-60.
CC BY
https://pubmed.ncbi.nlm.nih.gov/23288988/
Asian People Cornea / metabolism Corneal Dystrophies, Hereditary / genetics Mutation Phosphatidylinositol 3-Kinases / genetics
Asian People Cornea / metabolism Corneal Dystrophies, Hereditary / genetics Mutation Phosphatidylinositol 3-Kinases / genetics Case Reports Research Support, Non-U.S. Gov't Base Sequence Cornea / pathology Corneal Dystrophies, Hereditary / pathology DNA Mutational Analysis Exons Female Humans Middle Aged Molecular Sequence Data Phenotype Polymorphism, Restriction Fragment Length PIKFYVE protein, human Corneal Dystrophy, Fleck
PMC3534130
23288988
A novel mutation (p.Glu1389AspfsX16) of the phosphoinositide kinase, FYVE finger containing gene found in a Japanese patient with fleck corneal dystrophy
2012