|
Avellino corneal dystrophy
|
|
0.900 |
CausalMutation
|
CLINVAR |
|
|
|
|
Avellino corneal dystrophy
|
|
0.900 |
CausalMutation
|
CLINVAR |
|
|
|
|
Avellino corneal dystrophy
|
|
0.900 |
GeneticVariation
|
UNIPROT |
|
|
|
|
Reis-Bucklers' corneal dystrophy
|
|
0.880 |
CausalMutation
|
CLINVAR |
|
|
|
|
Avellino corneal dystrophy
|
|
0.900 |
GeneticVariation
|
BEFREE |
The R124H keratoepithelin mutation is the same mutation recently reported to be responsible for Avellino corneal dystrophy.
|
9727418 |
1998 |
|
Reis-Bucklers' corneal dystrophy
|
|
0.880 |
GeneticVariation
|
UNIPROT |
A common beta ig-h3 gene mutation (delta f540) in a large cohort of Sardinian Reis Bücklers corneal dystrophy patients. Mutations in brief no. 180. Online.
|
10660331 |
1998 |
|
Reis-Bucklers' corneal dystrophy
|
|
0.880 |
GeneticVariation
|
UNIPROT |
Two distinct kerato-epithelin mutations in Reis-Bücklers corneal dystrophy.
|
9780098 |
1998 |
|
Reis-Bucklers' corneal dystrophy
|
|
0.880 |
GeneticVariation
|
BEFREE |
On the other hand, a new kerato-epithelin mutation, Arg124Leu, was found to cause the RBCD variant characterized by recurrent epithelial erosions and progressive geographic subepithelial opacification.
|
9780098 |
1998 |
|
Corneal dystrophy
|
|
0.100 |
GeneticVariation
|
BEFREE |
All five patients with the severe form of corneal dystrophy had homozygous R124H keratoepithelin mutations.
|
9727418 |
1998 |
|
Granular Dystrophy, Corneal
|
|
0.100 |
GeneticVariation
|
BEFREE |
The homozygous R124H keratoepithelin mutations are the cause of the severe variant of GCD characterized by juvenile-onset and confluent superficial opacity.
|
9727418 |
1998 |
|
Corneal dystrophy
|
|
0.100 |
GeneticVariation
|
BEFREE |
Codon 124 is a hot spot for kerato-epithelin mutations, where the mutations responsible for three autosomal dominant corneal dystrophies--lattice type I (Arg124Cys), Avellino (Arg124His), and the variant of RBCD with geographic rather than honeycomb opacities (Arg124Leu)--are located.
|
9780098 |
1998 |
|
Dystrophy, granular
|
|
0.040 |
GeneticVariation
|
BEFREE |
Arg124His mutation of the betaig-h3 gene was found in a pedigree with granular dystrophy.
|
9603385 |
1998 |
|
Corneal dystrophy
|
|
0.100 |
GeneticVariation
|
BEFREE |
Varied appearance of cornea of patients with corneal dystrophy associated with R124H mutation in the BIGH3 gene.
|
10422854 |
1999 |
|
Granular Dystrophy, Corneal
|
|
0.100 |
GeneticVariation
|
BEFREE |
A novel R124L mutation of the BIGH3 gene was associated in this family with a superficial variant of granular corneal dystrophy.
|
9930165 |
1999 |
|
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 |
|
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 |
|
Avellino corneal dystrophy
|
|
0.900 |
GeneticVariation
|
BEFREE |
Avellino corneal dystrophy associated with the R124H mutation is the most common form of corneal stromal dystrophy in Japan.
|
11024425 |
2000 |
|
Avellino corneal dystrophy
|
|
0.900 |
GeneticVariation
|
BEFREE |
In 68 unrelated patients who had been diagnosed with GCD, 62 patients (91%) were found to have the R124H mutation, which has been reported to cause ACD, whereas only six patients (9%) had the R555W mutation.
|
10832717 |
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 |
|
Granular Dystrophy, Corneal
|
|
0.100 |
GeneticVariation
|
BEFREE |
In 68 unrelated patients who had been diagnosed with GCD, 62 patients (91%) were found to have the R124H mutation, which has been reported to cause ACD, whereas only six patients (9%) had the R555W mutation.
|
10832717 |
2000 |
|
Granular Dystrophy, Corneal
|
|
0.100 |
GeneticVariation
|
BEFREE |
All 34 patients with the R124L mutation displayed the clinical, histologic, and electron microscopic features of the dystrophy previously described as a superficial variant of corneal granular dystrophy.
|
10889112 |
2000 |
|
Corneal dystrophy
|
|
0.100 |
GeneticVariation
|
BEFREE |
This study was designed to describe the clinical, histologic, and ultrastructural features of the corneal dystrophy associated with the R124L mutation of the BIGH3 gene.
|
10889112 |
2000 |
|
Corneal dystrophy
|
|
0.100 |
GeneticVariation
|
BEFREE |
Corneal guttata are one of the characteristics of the corneal dystrophy resulting from betaig-h3 R124H mutation.
|
10611102 |
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 |
|
Lattice corneal dystrophy Type I
|
|
0.040 |
GeneticVariation
|
BEFREE |
The incidence of mutations was ranked as follows: 118 patients (72%), the R124H mutation associated with Avellino corneal dystrophy; 23 patients (14%), the R124C mutation associated with lattice corneal dystrophy type 1; and 10 patients (6%), the P501T mutation associated with lattice corneal dystrophy type 3A.
|
11024425 |
2000 |