article_metadata: Satoshi Kawasaki Kenta Yamasaki Hiroko Nakagawa Katsuhiko Shinomiya Mina Nakatsukasa Yoshihide Nakai Shigeru Kinoshita
article_metadata: Mol Vis
article_metadata: 2012;18:2954-60.
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/23288988/
article_metadata: Asian People Cornea / metabolism Corneal Dystrophies, Hereditary / genetics Mutation Phosphatidylinositol 3-Kinases / genetics
article_metadata: 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
article_metadata: PMC3534130
article_metadata: 23288988
article_metadata: A novel mutation (p.Glu1389AspfsX16) of the phosphoinositide kinase, FYVE finger containing gene found in a Japanese patient with fleck corneal dystrophy
article_metadata: 2012