A clinical and molecular-genetic analysis of Chinese patients with lattice corneal dystrophy and novel Thr538Pro mutation in the TGFBI (BIGH3) gene.
Yu
Ping
P
Department of Medical Genetics, School of Medicine, Zhejiang University, Hangzhou 310006, China.
Gu
Yangshun
Y
Yang
Yuehong
Y
Yan
Xiaoyi
X
Chen
Lili
L
Ge
Zhen
Z
Qi
Ming
M
Si
Jianmin
J
Guo
Lei
L
D002681:China; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011392:Proline / Q000235:genetics*; D013912:Threonine / Q000235:genetics*; D016212:Transforming Growth Factor beta / Q000235:genetics*; D053773:Transforming Growth Factor beta1
C508960:TGFB1 protein, human; D016212:Transforming Growth Factor beta; D053773:Transforming Growth Factor beta1; D013912:Threonine; D011392:Proline