rs59202432
|
KRT12;LOC105371777
|
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 |
rs62635290
|
KRT12;LOC105371777
|
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 |
rs62635290
|
KRT12;LOC105371777
|
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 |
rs57218384
|
KRT12;LOC105371777
|
Macular dystrophy, corneal type 1
|
|
0.010 |
GeneticVariation |
BEFREE |
Heterozygous missense mutations in K3 (E509K) and in K12 (V143L; R135T) completely co-segregated with MCD in the families and were not found in 100 normal unrelated chromosomes.
|
9171831 |
1997 |
rs58162394
|
KRT12;LOC105371777
|
Macular dystrophy, corneal type 1
|
|
0.010 |
GeneticVariation |
BEFREE |
In this study, four new K12 mutations (Arg135Gly, Arg135Ile, Tyr429Asp, and Leu140Arg) were identified in three unrelated MCD pedigrees and in one individual with MCD.
|
9399908 |
1997 |
rs58343600
|
KRT12;LOC105371777
|
Macular dystrophy, corneal type 1
|
|
0.010 |
GeneticVariation |
BEFREE |
Heterozygous missense mutations in K3 (E509K) and in K12 (V143L; R135T) completely co-segregated with MCD in the families and were not found in 100 normal unrelated chromosomes.
|
9171831 |
1997 |
rs58918655
|
KRT12;LOC105371777
|
Macular dystrophy, corneal type 1
|
|
0.010 |
GeneticVariation |
BEFREE |
In this study, four new K12 mutations (Arg135Gly, Arg135Ile, Tyr429Asp, and Leu140Arg) were identified in three unrelated MCD pedigrees and in one individual with MCD.
|
9399908 |
1997 |
rs57218384
|
KRT12;LOC105371777
|
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
|
0.730 |
GeneticVariation |
UNIPROT |
A novel keratin 12 mutation in a German kindred with Meesmann's corneal dystrophy.
|
10781519 |
2000 |
rs57218384
|
KRT12;LOC105371777
|
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
|
0.730 |
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 |
rs886038212
|
KRT12;LOC105371777
|
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
|
0.730 |
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 |
rs886038212
|
KRT12;LOC105371777
|
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
|
0.730 |
GeneticVariation |
UNIPROT |
A novel keratin 12 mutation in a German kindred with Meesmann's corneal dystrophy.
|
10781519 |
2000 |
rs267607386
|
KRT12;LOC105371777
|
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
|
0.710 |
GeneticVariation |
UNIPROT |
A novel keratin 12 mutation in a German kindred with Meesmann's corneal dystrophy.
|
10781519 |
2000 |
rs267607386
|
KRT12;LOC105371777
|
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
|
0.710 |
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 |
rs58038639
|
KRT12;LOC105371777
|
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
|
0.710 |
GeneticVariation |
UNIPROT |
A novel keratin 12 mutation in a German kindred with Meesmann's corneal dystrophy.
|
10781519 |
2000 |
rs58038639
|
KRT12;LOC105371777
|
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
|
0.710 |
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 |
rs267607387
|
KRT12;LOC105371777
|
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 |
rs267607387
|
KRT12;LOC105371777
|
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 |
rs28936695
|
KRT12;LOC105371777
|
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 |
rs28936695
|
KRT12;LOC105371777
|
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 |
rs58162394
|
KRT12;LOC105371777
|
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 |
rs58162394
|
KRT12;LOC105371777
|
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 |
rs58343600
|
KRT12;LOC105371777
|
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 |
rs58343600
|
KRT12;LOC105371777
|
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 |
rs58864803
|
KRT12;LOC105371777
|
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 |
rs58864803
|
KRT12;LOC105371777
|
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 |