Jessica A Gee Ricardo F Frausto Duk-Won D Chung Chulaluck Tangmonkongvoragul Derek J Le Cynthia Wang Jonathan Han Anthony J Aldave
Mol Vis
2015 Sep 17;21:1093-100.
CC BY-NC-ND
https://pubmed.ncbi.nlm.nih.gov/26396486/
Base Sequence Corneal Dystrophies, Hereditary / genetics DNA Copy Number Variations Frameshift Mutation Phosphatidylinositol 3-Kinases / genetics Sequence Deletion
Base Sequence Corneal Dystrophies, Hereditary / genetics DNA Copy Number Variations Frameshift Mutation Phosphatidylinositol 3-Kinases / genetics Sequence Deletion Case Reports Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Adult Cornea / metabolism Cornea / pathology Corneal Dystrophies, Hereditary / diagnosis Corneal Dystrophies, Hereditary / pathology DNA Mutational Analysis Exons Female Gene Expression Heterozygote Humans Molecular Sequence Data Phosphatidylinositol 3-Kinases PIKFYVE protein, human Corneal Dystrophy, Fleck
PMC4575904
26396486
Identification of novel PIKFYVE gene mutations associated with Fleck corneal dystrophy
2015