rs121909211
|
|
|
0.100 |
GeneticVariation |
BEFREE |
R124H mutation is the most prominent mutation type among GCD outpatients in Eastern China.
|
28377594 |
2017 |
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 |
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 |
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 |
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 |
rs121909211
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Many Japanese patients with CD had ACD with R124H mutation.GCD with R555W mutation was rare.
|
11095060 |
2000 |
rs121909211
|
|
|
0.100 |
GeneticVariation |
BEFREE |
PCFs were isolated from the corneas of normal subjects and GCD II patients who were heterozygous and homozygous for the TGFBI R124H mutation.
|
19933198 |
2010 |
rs121909211
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The family with the R124H mutation was diagnosed with granular corneal dystrophy type 2.
|
28358433 |
2017 |
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 |
rs121909211
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The most common mutations in Taiwan were R124H in GCD type 2 and R555W in GCD type 1.
|
22355247 |
2012 |
rs121909211
|
|
|
0.100 |
GeneticVariation |
BEFREE |
To correct genetic defects in GCD patient cells, we designed a disease-specific guide RNA (gRNA) targeting the R124H mutation of TGFBI, which causes GCD type 2 (GCD2).
|
29196743 |
2017 |
rs121909211
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Typical corneal non-amyloid deposits from GCD type 2 (R124H), amyloid from a variant of LCD type 1 (V624M) and disease-free tissue controls were procured by laser capture microdissection and analyzed by tandem mass spectrometry.
|
22155582 |
2012 |
rs121909211
|
|
|
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 |