rs121909211
|
|
|
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 |
rs121909211
|
|
|
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 |
rs121909211
|
|
|
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 |
rs121909208
|
|
|
0.100 |
GeneticVariation |
BEFREE |
These results, together with our previous findings, show that the classic form of granular corneal dystrophy associated with the R555W mutation is rare in Japanese patients, whereas granular corneal dystrophy accompanied by amyloid deposits and associated with the R124H mutation, Avellino corneal dystrophy, is more common.
|
9744382 |
1998 |
rs121909208
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The three severely affected family members exhibited homozygous mutations at codon 555 (arginine to tryptophan) in the keratoepithelin gene, whereas those with typical granular corneal dystrophy had the heterozygous mutation at the same codon.
|
9727509 |
1998 |
rs121909211
|
|
|
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 |
rs121909210
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Protein Composition of TGFBI-R124C- and TGFBI-R555W-Associated Aggregates Suggests Multiple Mechanisms Leading to Lattice and Granular Corneal Dystrophy.
|
26207300 |
2015 |
rs121909210
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Arg124Cys and Arg555Trp appear to be the predominant mutations causing LCD and GCD, respectively, in the population studied.
|
15623763 |
2005 |
rs780263122
|
|
|
0.010 |
GeneticVariation |
BEFREE |
R124H mutation is the most prominent mutation type among GCD outpatients in Eastern China.
|
28377594 |
2017 |
rs541270955
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The detection of the D123H mutation in three unaffected family members indicates that it has low penetrance for GCD.
|
12782158 |
2003 |
rs121909209
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Records of patients carrying this mutation were compared with those from three unrelated patients with corneal dystrophy of Bowman's layer (CDB) type 2 (R555Q mutation) and from three unrelated patients with classic corneal granular dystrophy (R555W mutation).
|
10889112 |
2000 |