1Yoo SY, Kim TI, Lee SY, et al. Development of a DNA chip for the diagnosis of the most common corneal dystrophies caused by mutations in the betaigh3 gene[J]. Br J Ophthalmol, 2007,91 (6) : 722 -727.
2Paliwal P, Sharma A, Tandon R, et al. TGFBI mutation screening and genotype-phenotype correlation in north Indian patients with corneal dystrophies [ J ]. Mol Vis, 2010,16 : 1429 - 1438.
3Vincent AL, de Karolyi B, Patel DV, et al. TGFBI mutational analysis in a New Zealand population of inherited corneal dystrophy patients [ J ]. Bri J Ophthalmo1,2010, 94( 7 ) : 836 - 842.
4Grunauer-Kloevekom C, Braeutigam S, Weidle E, et al. Molecular genetic and histopathological examina- tions for genotype-phenotype analysis in patients with THFBI-linked corneal dystrophy [ J ]. Klin Monbl Augenheilkd, 2006,223 ( 10 ) : 829 - 836.
5Patel DA, Chang SH, Harocopos GJ, et al. Granular and lattice deposits in corneal dystrophy caused by R124C mutation of TGFBIp [ J]. Cormea, 2010, 11 (29) : 1215 - 1222.
6Kannabiran C, Klintworth GK. TGFBI gene mutations in corneals dystrophies[ J]. Hum Mutat, 2006,27 (7) :615 - 625. G.
7runauer-Kloevekom C, Brautigam S, Wolter- Roessler M, et al. Molecular genetic analysis in the BIGH3 gene in lattice and granular corneal dystrophy: Is indirect mutation analysis recommended [J ]. Klin Monbl Augenheilkd, 2005,222(12) : 1017- 1023.
8Kim JE, Hart MS, Bae YC, et al. Anterior segment dysgenesis after overexpression of transforming growth factor-13-induced gene, 13igh3, in the mouse eye [ J ]. Mol Vis, 2007,13 : 1942 - 1952.
9Bustamante M, Tasinato A, Maurer F, et al. Overexpression of a mutant form of TGFBIfBIGH3 induces retinal degeneration in trans-genic mice [ J ]. Mol Vis, 2008,14: 1129 - 1137.
