Homozygous mutation (L527R) of TGFBI in an individual with lattice corneal dystrophy.
Yamada
N
N
Chikama
T-I
TI
Morishige
N
N
Yanai
R
R
Nishida
T
T
Inui
M
M
Seki
K
K
D000686:Amyloidosis / Q000235:genetics; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics*; D004252:DNA Mutational Analysis; D006720:Homozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D011506:Proteins / Q000235:genetics*
D011506:Proteins