Wenping Cao Hongyan Ge Xiaobo Cui Lu Zhang Jing Bai Songbin Fu Ping Liu
Mol Vis
2009;15:70-5.
CC BY
https://pubmed.ncbi.nlm.nih.gov/19145249/
Corneal Dystrophies, Hereditary / genetics Extracellular Matrix Proteins / genetics Genetic Predisposition to Disease Mutation / genetics Penetrance Transforming Growth Factor beta / genetics
Corneal Dystrophies, Hereditary / genetics Extracellular Matrix Proteins / genetics Genetic Predisposition to Disease Mutation / genetics Penetrance Transforming Growth Factor beta / genetics Case Reports Adolescent Adult Aged Amino Acid Substitution Asian People / genetics Base Sequence Child Child, Preschool China Cornea / pathology DNA Mutational Analysis Exons / genetics Family Female Homozygote Humans Male Middle Aged Molecular Sequence Data Pedigree Phenotype Extracellular Matrix Proteins Transforming Growth Factor beta betaIG-H3 protein
PMC2622714
19145249
Reduced penetrance in familial Avellino corneal dystrophy associated with TGFBI mutations
2009