Kyung Eun Han Seung-il Choi Woo Suk Chung Se Hwan Jung Nicholas Katsanis Tae-im Kim Eung Kweon Kim
Mol Vis
2012;18:1755-62.
CC BY
https://pubmed.ncbi.nlm.nih.gov/22815629/
Asian People / genetics Cornea / metabolism Corneal Dystrophies, Hereditary / genetics Extracellular Matrix Proteins / genetics Transforming Growth Factor beta / genetics
Asian People / genetics Cornea / metabolism Corneal Dystrophies, Hereditary / genetics Extracellular Matrix Proteins / genetics Transforming Growth Factor beta / genetics Research Support, Non-U.S. Gov't Adult Aged Aged, 80 and over Case-Control Studies Cells, Cultured Cornea / pathology Corneal Dystrophies, Hereditary / metabolism Corneal Dystrophies, Hereditary / pathology DNA Mutational Analysis Female Fibroblasts / metabolism Fibroblasts / pathology Gene Expression Genetic Variation Heterozygote Humans Male Middle Aged Pedigree Phenotype Severity of Illness Index Extracellular Matrix Proteins Transforming Growth Factor beta betaIG-H3 protein Corneal dystrophy Avellino type
PMC3398492
22815629
Extremely varied phenotypes in granular corneal dystrophy type 2 heterozygotes
2012