|
Lattice corneal dystrophy Type I
|
|
0.740 |
GeneticVariation
|
BEFREE |
We observed a novel LCD family which carried two pathogenic mutations (R124C and A546D) in the TGFBI gene.
|
28393022 |
2017 |
|
Lattice corneal dystrophy Type I
|
|
0.740 |
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 |
|
Lattice corneal dystrophy Type I
|
|
0.740 |
GeneticVariation
|
BEFREE |
Spontaneous mutations were detected in 2 families: an R124C mutation in 1 family with lattice corneal dystrophy (LCD) type I and an A546D mutation in the other with atypical LCD.
|
22355247 |
2012 |
|
Lattice corneal dystrophy Type I
|
|
0.740 |
GeneticVariation
|
UNIPROT |
Unilateral lattice corneal dystrophy associated with the novel His572del mutation in the TGFBI gene.
|
16541014 |
2006 |
|
Lattice corneal dystrophy Type I
|
|
0.740 |
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 |
|
Lattice corneal dystrophy Type I
|
|
0.740 |
GeneticVariation
|
UNIPROT |
TGFBI gene mutations causing lattice and granular corneal dystrophies in Indian patients.
|
15623763 |
2005 |
|
Lattice corneal dystrophy Type I
|
|
0.740 |
GeneticVariation
|
UNIPROT |
Novel mutation (V505D) of the TGFBI gene found in a Chinese family with lattice corneal dystrophy, type I.
|
15838722 |
2005 |
|
Lattice corneal dystrophy Type I
|
|
0.740 |
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 |
|
Lattice corneal dystrophy Type I
|
|
0.740 |
GeneticVariation
|
UNIPROT |
Lattice corneal dystrophy associated with the Ala546Asp and Pro551Gln missense changes in the TGFBI gene.
|
15531312 |
2004 |
|
Lattice corneal dystrophy Type I
|
|
0.740 |
GeneticVariation
|
UNIPROT |
A new mutation (Leu569Arg) within exon 13 of the TGFBI (BIGH3) gene causes lattice corneal dystrophy type I.
|
14597039 |
2003 |
|
Lattice corneal dystrophy Type I
|
|
0.740 |
GeneticVariation
|
UNIPROT |
Late-onset form of lattice corneal dystrophy caused by leu527Arg mutation of the TGFBI gene.
|
11413411 |
2001 |
|
Lattice corneal dystrophy Type I
|
|
0.740 |
GeneticVariation
|
UNIPROT |
Corneal amyloidosis caused by Leu518Pro mutation of betaig-h3 gene.
|
10837380 |
2000 |
|
Lattice corneal dystrophy Type I
|
|
0.740 |
GeneticVariation
|
UNIPROT |
A new L527R mutation of the betaIGH3 gene in patients with lattice corneal dystrophy with deep stromal opacities.
|
9799082 |
1998 |
|
Familial Amyloid Polyneuropathy, Type V
|
|
0.040 |
GeneticVariation
|
BEFREE |
To report a phenotypic variant pedigree of lattice corneal dystrophy (LCD) associated with two mutations, R124C and A546D, in the transforming growth factor beta-induced gene (TGFBI).
|
28393022 |
2017 |
|
Familial Amyloid Polyneuropathy, Type V
|
|
0.040 |
GeneticVariation
|
BEFREE |
Spontaneous mutations were detected in 2 families: an R124C mutation in 1 family with lattice corneal dystrophy (LCD) type I and an A546D mutation in the other with atypical LCD.
|
22355247 |
2012 |
|
Familial Amyloid Polyneuropathy, Type V
|
|
0.040 |
GeneticVariation
|
BEFREE |
The TGFBI A546D mutation causes an atypical type of lattice corneal dystrophy.
|
17893671 |
2007 |
|
Corneal dystrophy, Lattice type 3
|
|
0.040 |
GeneticVariation
|
BEFREE |
The lattice phenotype resulting from the TGFBI A546D mutation in this family is distinct from that observed in a previously described pedigree carrying the A546D mutation and exhibiting a phenotype designated "polymorphic corneal amyloidosis".
|
17893671 |
2007 |
|
Amyloid of cornea
|
|
0.040 |
GeneticVariation
|
BEFREE |
The lattice phenotype resulting from the TGFBI A546D mutation in this family is distinct from that observed in a previously described pedigree carrying the A546D mutation and exhibiting a phenotype designated "polymorphic corneal amyloidosis".
|
17893671 |
2007 |
|
Corneal dystrophy, Lattice type 3
|
|
0.040 |
GeneticVariation
|
BEFREE |
No pathogenic mutations, including the Ala546Asp missense mutation previously associated with polymorphic corneal amyloidosis, were identified in any of the patients.
|
16670477 |
2006 |
|
Amyloid of cornea
|
|
0.040 |
GeneticVariation
|
BEFREE |
No pathogenic mutations, including the Ala546Asp missense mutation previously associated with polymorphic corneal amyloidosis, were identified in any of the patients.
|
16670477 |
2006 |
|
Corneal dystrophy, Lattice type 3
|
|
0.040 |
GeneticVariation
|
BEFREE |
We have designated this entity, which is caused by an A546D mutation in the TGFBI gene, polymorphic corneal amyloidosis.
|
15177960 |
2004 |
|
Amyloid of cornea
|
|
0.040 |
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 |
|
Amyloid of cornea
|
|
0.040 |
GeneticVariation
|
BEFREE |
We have designated this entity, which is caused by an A546D mutation in the TGFBI gene, polymorphic corneal amyloidosis.
|
15177960 |
2004 |
|
Familial Amyloid Polyneuropathy, Type V
|
|
0.040 |
GeneticVariation
|
BEFREE |
We present a phenotypic variant of lattice corneal dystrophy associated with the Ala546Asp and Pro551Gln missense changes in exon 12 of the TGFBI gene.
|
15531312 |
2004 |
|
Corneal dystrophy, Lattice type 3
|
|
0.040 |
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 |