rs121909209
|
|
|
0.840 |
GeneticVariation |
BEFREE |
The R555Q mutation in Thiel-Behnke corneal dystrophy is not as rare in Taiwan as it is in other Asian countries.
|
22355247 |
2012 |
rs121909209
|
|
|
0.840 |
GeneticVariation |
BEFREE |
All subjects recruited exhibited a range of corneal dystrophies, including Thiel-Behnke corneal dystrophy (TBCD, R555Q; 6 families and 4 individuals), granular corneal dystrophy type 2 (GCD2, R124H; 61 families and 80 individuals), lattice corneal dystrophy (LCD; 4 families and 5 individuals; 7 with type 1 [R124C], and 2 with a variant [L527R, P542R]).
|
22876129 |
2012 |
rs121909209
|
|
|
0.840 |
GeneticVariation |
BEFREE |
A family with Thiel-Behnke corneal dystrophy exhibited an R555Q mutation.
|
18259096 |
2008 |
rs121909209
|
|
|
0.840 |
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 |
rs121909209
|
|
|
0.840 |
GeneticVariation |
UNIPROT |
|
|
|
rs121909209
|
|
A |
0.840 |
CausalMutation |
CLINVAR |
|
|
|
rs121909210
|
|
|
0.020 |
GeneticVariation |
BEFREE |
All subjects recruited exhibited a range of corneal dystrophies, including Thiel-Behnke corneal dystrophy (TBCD, R555Q; 6 families and 4 individuals), granular corneal dystrophy type 2 (GCD2, R124H; 61 families and 80 individuals), lattice corneal dystrophy (LCD; 4 families and 5 individuals; 7 with type 1 [R124C], and 2 with a variant [L527R, P542R]).
|
22876129 |
2012 |
rs121909210
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The Arg124Cys mutation was associated with TBCD in 2 Chinese families.
|
19433713 |
2009 |
rs121909208
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The p. Arg555Trp mutation of the TGFBI gene was associated with TBCD, which revealed a novel phenotype-genotype correlation within the mutational spectrum of phenotypically diverse corneal dystrophies.
|
26464103 |
2015 |
rs121909211
|
|
|
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 |