Judy L Chen Benjamin R Lin Katherine M Gee Jessica A Gee Duk-Won D Chung Ricardo F Frausto Sophie X Deng Anthony J Aldave
Mol Vis
2015 Dec 31;21:1378-86.
CC BY-NC-ND
https://pubmed.ncbi.nlm.nih.gov/26788030/
Corneal Dystrophy, Juvenile Epithelial of Meesmann / genetics Keratin-12 / genetics Keratin-3 / genetics Mutation
Corneal Dystrophy, Juvenile Epithelial of Meesmann / genetics Keratin-12 / genetics Keratin-3 / genetics Mutation Case Reports Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Amino Acid Sequence Amino Acid Substitution Base Sequence Child Corneal Dystrophy, Juvenile Epithelial of Meesmann / pathology DNA Mutational Analysis Female Heterozygote Humans INDEL Mutation Keratin-12 / chemistry Keratin-3 / chemistry Male Middle Aged Mutation, Missense Pedigree Polymorphism, Single Nucleotide KRT12 protein, human KRT3 protein, human Keratin-12 Keratin-3
PMC4704769
26788030
Identification of presumed pathogenic KRT3 and KRT12 gene mutations associated with Meesmann corneal dystrophy
2015