Lattice corneal dystrophy type III in patients with a homozygous L527R mutation in the TGFBI gene.
Funayama
Tomoyo
T
Mashima
Yukihiko
Y
Kawashima
Motoko
M
Yamada
Masakazu
M
D000368:Aged; D000682:Amyloid / Q000378:metabolism; D000686:Amyloidosis / Q000235:genetics / Q000378:metabolism / Q000601:surgery; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics* / Q000378:metabolism / Q000601:surgery; D004252:DNA Mutational Analysis; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D006801:Humans; D015948:Keratoplasty, Penetrating; D008297:Male; D017354:Point Mutation; D016212:Transforming Growth Factor beta / Q000235:genetics*; D000099222:betaIG-H3 Protein
D000682:Amyloid; D016326:Extracellular Matrix Proteins; D016212:Transforming Growth Factor beta; D000099222:betaIG-H3 Protein