|
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
|
0.700 |
GeneticVariation
|
UNIPROT |
KRT12 mutations and in vivo confocal microscopy in two Japanese families with Meesmann corneal dystrophy.
|
24099278 |
2014 |
|
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Severe Meesmann's epithelial corneal dystrophy phenotype due to a missense mutation in the helix-initiation motif of keratin 12.
|
23222558 |
2013 |
|
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Identification of a novel mutation in the cornea specific keratin 12 gene causing Meesmann's corneal dystrophy in a German family.
|
20577595 |
2010 |
|
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A novel mutation as the basis for asymptomatic meesmann dystrophy in a Danish family.
|
18245975 |
2008 |
|
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A novel mutation in the cornea-specific keratin 12 gene in Meesmann corneal dystrophy.
|
18661274 |
2008 |
|
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A novel mutation of the Keratin 12 gene responsible for a severe phenotype of Meesmann's corneal dystrophy.
|
17653038 |
2007 |
|
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Meesmann corneal dystrophy (MECD): report of 2 families and a novel mutation in the cornea specific keratin 12 (KRT12) gene.
|
16352477 |
2005 |
|
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Novel mutations in the helix termination motif of keratin 3 and keratin 12 in 2 Taiwanese families with Meesmann corneal dystrophy.
|
16227835 |
2005 |
|
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A novel arginine substitution mutation in 1A domain and a novel 27 bp insertion mutation in 2B domain of keratin 12 gene associated with Meesmann's corneal dystrophy.
|
15148206 |
2004 |
|
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Heterozygous Ala137Pro mutation in keratin 12 gene found in Japanese with Meesmann's corneal dystrophy.
|
12543196 |
2003 |
|
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A novel keratin 12 mutation in a German kindred with Meesmann's corneal dystrophy.
|
10781519 |
2000 |
|
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Molecular genetics of Meesmann's corneal dystrophy: ancestral and novel mutations in keratin 12 (K12) and complete sequence of the human KRT12 gene.
|
10644419 |
2000 |
|
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy.
|
9171831 |
1997 |
|
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Isolation and chromosomal localization of a cornea-specific human keratin 12 gene and detection of four mutations in Meesmann corneal epithelial dystrophy.
|
9399908 |
1997 |
|
Macular dystrophy, corneal type 1
|
|
0.010 |
GeneticVariation
|
BEFREE |
A novel missense mutation (R503P) in KRT3 and another novel missense mutation (Y429C) in KRT12 lead to MCD in 2 unrelated Taiwanese families.
|
16227835 |
2005 |