rs267607110
×
Entrez Id:
7045
Gene Symbol:
TGFBI
TGFBI
Lattice corneal dystrophy Type I
0.720
GeneticVariation
BEFREE
In this study, we investigated whether the phenotypic difference observed between two lattice corneal dystrophy type 1 (LCD type 1) cases caused by either a single A546D substitution or an A546D/P551Q double substitution in TGFBIp (transforming growth factor beta induced protein) can be ascribed to (i) a difference in the proteomes of corneal amyloid deposits, (ii) altered proteolysis of TGFBIp, or (iii) structural changes of TGFBIp introduced by the P551Q amino acid substitution.
24302499
2014
rs267607110
×
Entrez Id:
7045
Gene Symbol:
TGFBI
TGFBI
Lattice corneal dystrophy Type I
0.720
GeneticVariation
UNIPROT
Unilateral lattice corneal dystrophy associated with the novel His572del mutation in the TGFBI gene.
16541014
2006
rs267607110
×
Entrez Id:
7045
Gene Symbol:
TGFBI
TGFBI
Lattice corneal dystrophy Type I
0.720
GeneticVariation
UNIPROT
A novel H572R mutation in the transforming growth factor-beta-induced gene in a Thai family with lattice corneal dystrophy type I.
17013691
2006
rs267607110
×
Entrez Id:
7045
Gene Symbol:
TGFBI
TGFBI
Lattice corneal dystrophy Type I
0.720
GeneticVariation
UNIPROT
TGFBI gene mutations causing lattice and granular corneal dystrophies in Indian patients.
15623763
2005
rs267607110
×
Entrez Id:
7045
Gene Symbol:
TGFBI
TGFBI
Lattice corneal dystrophy Type I
0.720
GeneticVariation
UNIPROT
Novel mutation (V505D) of the TGFBI gene found in a Chinese family with lattice corneal dystrophy, type I.
15838722
2005
rs267607110
×
Entrez Id:
7045
Gene Symbol:
TGFBI
TGFBI
Lattice corneal dystrophy Type I
0.720
GeneticVariation
BEFREE
Two mutations in the TGFBI gene (A546D and P551Q ) cosegregated with LCD in an extensively studied family that lacked the R124C mutation that frequently accompanies this form of corneal amyloidosis.
15111592
2004
rs267607110
×
Entrez Id:
7045
Gene Symbol:
TGFBI
TGFBI
Lattice corneal dystrophy Type I
0.720
GeneticVariation
UNIPROT
Lattice corneal dystrophy associated with the Ala546Asp and Pro551Gln missense changes in the TGFBI gene.
15531312
2004
rs267607110
×
Entrez Id:
7045
Gene Symbol:
TGFBI
TGFBI
Lattice corneal dystrophy Type I
0.720
GeneticVariation
UNIPROT
A new mutation (Leu569Arg) within exon 13 of the TGFBI (BIGH3) gene causes lattice corneal dystrophy type I.
14597039
2003
rs267607110
×
Entrez Id:
7045
Gene Symbol:
TGFBI
TGFBI
Lattice corneal dystrophy Type I
0.720
GeneticVariation
UNIPROT
Late-onset form of lattice corneal dystrophy caused by leu527Arg mutation of the TGFBI gene.
11413411
2001
rs267607110
×
Entrez Id:
7045
Gene Symbol:
TGFBI
TGFBI
Lattice corneal dystrophy Type I
0.720
GeneticVariation
UNIPROT
Corneal amyloidosis caused by Leu518Pro mutation of betaig-h3 gene.
10837380
2000
rs267607110
×
Entrez Id:
7045
Gene Symbol:
TGFBI
TGFBI
Lattice corneal dystrophy Type I
0.720
GeneticVariation
UNIPROT
A new L527R mutation of the betaIGH3 gene in patients with lattice corneal dystrophy with deep stromal opacities.
9799082
1998