|
rs121909210
|
|
|
0.070 |
GeneticVariation |
BEFREE |
Granular type I corneal dystrophy in a large consanguineous Tunisian family with homozygous p.R124S mutation in the <i>TGFBI</i> gene.
|
31322463 |
2019 |
|
rs121909210
|
|
|
0.070 |
GeneticVariation |
BEFREE |
Patients with an R124C mutation may have clinical features like corneal dystrophy of the Bowman layer.
|
25785536 |
2015 |
|
rs121909210
|
|
|
0.070 |
GeneticVariation |
BEFREE |
Seven lattice CD patients from four unrelated families had an identical p.H626R mutation in TGFBI, three patients from a single lattice CD family carried a p.R124C substitution in TGFBI, and a granular type 2 CD pedigree was demonstrated to carry a heterozygous TGFBI p.M619K substitution.
|
24801599 |
2014 |
|
rs121909210
|
|
|
0.070 |
GeneticVariation |
BEFREE |
Five mutations of TGFBI were identified in 21 families with CDs, including one novel small deletion mutation, c.delta1838-1849 (p.Delta613-616VAEP), responsible for one variant lattice CD (LCD) family and 4 known mutations, R555W mutation for 10 granular cornea dystrophy type I (GCD1) families, R124H for 5 GCD type II (GCD2), R124C for 4 LCD1, and H626R for one variant LCD.
|
20664689 |
2010 |
|
rs121909210
|
|
|
0.070 |
GeneticVariation |
BEFREE |
R124C and R555W TGFBI mutations cause lattice and granular type I corneal dystrophies in the studied families.
|
17768377 |
2007 |
|
rs121909210
|
|
|
0.070 |
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 |
|
rs121909210
|
|
|
0.070 |
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 |