|
Avellino corneal dystrophy
|
|
0.900 |
GeneticVariation
|
BEFREE |
Many Japanese patients with CD had ACD with R124H mutation.GCD with R555W mutation was rare.
|
11095060 |
2000 |
|
Granular Dystrophy, Corneal
|
|
0.100 |
GeneticVariation
|
BEFREE |
Many Japanese patients with CD had ACD with R124H mutation.GCD with R555W mutation was rare.
|
11095060 |
2000 |
|
Avellino corneal dystrophy
|
|
0.900 |
GeneticVariation
|
BEFREE |
Six patients with Avellino corneal dystrophy (ACD) associated with R124H, one patient with superficial granular corneal dystrophy (SGCD) associated with R124L, and seven patients with lattice corneal dystrophy type 1 (CDL1) associated with R124C were examined.
|
11262611 |
2000 |
|
Lattice corneal dystrophy Type I
|
|
0.040 |
GeneticVariation
|
BEFREE |
Six patients with Avellino corneal dystrophy (ACD) associated with R124H, one patient with superficial granular corneal dystrophy (SGCD) associated with R124L, and seven patients with lattice corneal dystrophy type 1 (CDL1) associated with R124C were examined.
|
11262611 |
2000 |
|
Avellino corneal dystrophy
|
|
0.900 |
GeneticVariation
|
BEFREE |
We report that the majority (90%) of ACD patients in Korea carry the R124H mutation.
|
11685063 |
2001 |
|
Dystrophy, granular
|
|
0.040 |
GeneticVariation
|
BEFREE |
We identified mutations R124C in the CDL1 family and R124H in four families with a granular dystrophy.
|
11685063 |
2001 |
|
Corneal dystrophy
|
|
0.100 |
GeneticVariation
|
BEFREE |
Diagnoses included Thiel-Benhke CD (TBCD/R555Q) (13 eyes), classic granular CD (CGCD/R555W) (28 eyes), superficial variant of granular dystrophy (SVGD/R124 l) (27 eyes), lattice CD type I (LCDI/R124C) (20 eyes), Avellino CD (ACD/R124H) (2 eyes), H626R-lattice dystrophy (LCD/H626R) (6 eyes), and two novel dystrophies: a French variant of granular dystrophy (FVGD/R124 l+DT125-DE126) (9 eyes) and a French lattice CD type IIIA (LCDIIIA/A546T) (5 eyes).
|
11927442 |
2002 |
|
Dystrophy, granular
|
|
0.040 |
GeneticVariation
|
BEFREE |
Diagnoses included Thiel-Benhke CD (TBCD/R555Q) (13 eyes), classic granular CD (CGCD/R555W) (28 eyes), superficial variant of granular dystrophy (SVGD/R124 l) (27 eyes), lattice CD type I (LCDI/R124C) (20 eyes), Avellino CD (ACD/R124H) (2 eyes), H626R-lattice dystrophy (LCD/H626R) (6 eyes), and two novel dystrophies: a French variant of granular dystrophy (FVGD/R124 l+DT125-DE126) (9 eyes) and a French lattice CD type IIIA (LCDIIIA/A546T) (5 eyes).
|
11927442 |
2002 |
|
Avellino corneal dystrophy
|
|
0.900 |
GeneticVariation
|
BEFREE |
In exon 4, an R124H mutation associated with Avellino corneal dystrophy (ACD) was found in 39/44 families (86.4%) and an R124C mutation associated with lattice corneal dystrophy type 1 (LCD1) was detected in 2/44 families (4.5%).
|
12225829 |
2002 |
|
Lattice corneal dystrophy Type I
|
|
0.040 |
GeneticVariation
|
BEFREE |
In exon 4, an R124H mutation associated with Avellino corneal dystrophy (ACD) was found in 39/44 families (86.4%) and an R124C mutation associated with lattice corneal dystrophy type 1 (LCD1) was detected in 2/44 families (4.5%).
|
12225829 |
2002 |
|
Avellino corneal dystrophy
|
|
0.900 |
GeneticVariation
|
BEFREE |
An unusual clinical phenotype of Avellino corneal dystrophy associated with an Arg124His beta iG-H3 mutation in an African-American woman.
|
15059726 |
2004 |
|
Reis-Bucklers' corneal dystrophy
|
|
0.880 |
GeneticVariation
|
UNIPROT |
In GCD, 18 patients with GCD type I had a mutation of arginine 555-to-tryptophan (Arg555Trp) and 1 patient with GCD type III (Reis-Bucklers dystrophy), had the Arg124Leu mutation.
|
15623763 |
2005 |
|
Granular Dystrophy, Corneal
|
|
0.100 |
GeneticVariation
|
BEFREE |
In GCD, 18 patients with GCD type I had a mutation of arginine 555-to-tryptophan (Arg555Trp) and 1 patient with GCD type III (Reis-Bucklers dystrophy), had the Arg124Leu mutation.
|
15623763 |
2005 |
|
Granular Dystrophy, Corneal
|
|
0.100 |
GeneticVariation
|
BEFREE |
We identified the following mutations: lattice corneal dystrophy--R124C and A546T; Reis-Bücklers corneal dystrophy--R555Q and R124L; granular corneal dystrophy--R555W and Avellino dystrophy--R555W.
|
16440005 |
2007 |
|
Avellino corneal dystrophy
|
|
0.900 |
GeneticVariation
|
BEFREE |
Avellino corneal dystrophy (ACD) is a common corneal dystrophy that shows allelic homogeneity, R124H mutation in the transforming growth factor beta-induced (TGFBI) gene.
|
17096061 |
2007 |
|
Reis-Bucklers' corneal dystrophy
|
|
0.880 |
GeneticVariation
|
BEFREE |
Two patients from one pedigree (a 29-year-old woman and 58-year-old man) with Thiel-Behnke corneal dystrophy (Arg555Gln [R555Q] heterozygous missense mutation of human transforming growth factor beta-induced [TGFBI] gene) and 3 patients from one pedigree (a 70-year-old woman, 58-year-old man, and 14-year old man) with Reis-Bücklers corneal dystrophy (Arg124Leu [R124L] heterozygous missense mutation of the TGFBI gene) were examined.
|
17198850 |
2007 |
|
Thiel-Behnke corneal dystrophy
|
|
0.010 |
GeneticVariation
|
BEFREE |
Two patients from one pedigree (a 29-year-old woman and 58-year-old man) with Thiel-Behnke corneal dystrophy (Arg555Gln [R555Q] heterozygous missense mutation of human transforming growth factor beta-induced [TGFBI] gene) and 3 patients from one pedigree (a 70-year-old woman, 58-year-old man, and 14-year old man) with Reis-Bücklers corneal dystrophy (Arg124Leu [R124L] heterozygous missense mutation of the TGFBI gene) were examined.
|
17198850 |
2007 |
|
Avellino corneal dystrophy
|
|
0.900 |
GeneticVariation
|
BEFREE |
Screening of TGFBI exons 4 and 12 revealed the Arg124His mutation associated with CGLCD.
|
17317389 |
2007 |
|
Avellino corneal dystrophy
|
|
0.900 |
GeneticVariation
|
BEFREE |
In Avellino corneal dystrophy (Arg124His mutation of human transforming growth factor beta-induced gene [TGFBI]), highly reflective granular materials with irregular edges were observed in the superficial stroma.
|
17846354 |
2007 |
|
Dystrophy, granular
|
|
0.040 |
GeneticVariation
|
BEFREE |
Three patients with "atypical granular" dystrophy later diagnosed as Avellino dystrophy were heterozygous for the R124H mutation.
|
17982422 |
2007 |
|
Reis-Bucklers' corneal dystrophy
|
|
0.880 |
GeneticVariation
|
BEFREE |
The R124L mutation was shown to be causative of Reis-Bucklers corneal dystrophy in 2 families.
|
18259096 |
2008 |
|
Avellino corneal dystrophy
|
|
0.900 |
GeneticVariation
|
BEFREE |
The finding of R124H in the Middle Eastern (Iranian) population supports the proposal that perhaps only substitution of histidine for arginine at position 124 of tumour growth factor beta induced protein results in the Avellino corneal dystrophy phenotype.
|
18290950 |
2008 |
|
Neoplasms
|
|
0.010 |
GeneticVariation
|
BEFREE |
The finding of R124H in the Middle Eastern (Iranian) population supports the proposal that perhaps only substitution of histidine for arginine at position 124 of tumour growth factor beta induced protein results in the Avellino corneal dystrophy phenotype.
|
18290950 |
2008 |
|
Avellino corneal dystrophy
|
|
0.900 |
GeneticVariation
|
BEFREE |
The detection of the R124H BIGH3 mutation confirmed the diagnosis of ACD in the reported families.
|
18465714 |
2008 |
|
Corneal dystrophy
|
|
0.100 |
GeneticVariation
|
BEFREE |
The corneal dystrophy-associated R124H mutation in TGFBI severely impairs interaction with periostin in vivo.
|
19478074 |
2009 |