article_metadata: Wenping Cao Hongyan Ge Xiaobo Cui Lu Zhang Jing Bai Songbin Fu Ping Liu
article_metadata: Mol Vis
article_metadata: 2009;15:70-5.
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/19145249/
article_metadata: Corneal Dystrophies, Hereditary / genetics Extracellular Matrix Proteins / genetics Genetic Predisposition to Disease Mutation / genetics Penetrance Transforming Growth Factor beta / genetics
article_metadata: 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
article_metadata: PMC2622714
article_metadata: 19145249
article_metadata: Reduced penetrance in familial Avellino corneal dystrophy associated with TGFBI mutations
article_metadata: 2009