rs886038212
|
KRT12;LOC105371777
|
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
|
0.730 |
GeneticVariation |
BEFREE |
Mass spectrometry (MS) and immunohistochemistry demonstrated a similarly altered keratin profile in corneal tissue from a K12-Leu132Pro MECD patient.
|
26758872 |
2016 |
rs57218384
|
KRT12;LOC105371777
|
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
|
0.730 |
GeneticVariation |
UNIPROT |
KRT12 mutations and in vivo confocal microscopy in two Japanese families with Meesmann corneal dystrophy.
|
24099278 |
2014 |
rs886038212
|
KRT12;LOC105371777
|
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
|
0.730 |
GeneticVariation |
BEFREE |
Combined with an effective delivery vehicle this siRNA approach represents a viable treatment option for prevention of the MECD pathology observed in K12-Leu132Pro heterozygous individuals.
|
24801514 |
2014 |
rs886038212
|
KRT12;LOC105371777
|
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
|
0.730 |
GeneticVariation |
UNIPROT |
KRT12 mutations and in vivo confocal microscopy in two Japanese families with Meesmann corneal dystrophy.
|
24099278 |
2014 |
rs267607386
|
KRT12;LOC105371777
|
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
|
0.710 |
GeneticVariation |
UNIPROT |
KRT12 mutations and in vivo confocal microscopy in two Japanese families with Meesmann corneal dystrophy.
|
24099278 |
2014 |
rs58038639
|
KRT12;LOC105371777
|
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
|
0.710 |
GeneticVariation |
UNIPROT |
KRT12 mutations and in vivo confocal microscopy in two Japanese families with Meesmann corneal dystrophy.
|
24099278 |
2014 |
rs267607387
|
KRT12;LOC105371777
|
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 |
rs28936695
|
KRT12;LOC105371777
|
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 |
rs58162394
|
KRT12;LOC105371777
|
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 |
rs58343600
|
KRT12;LOC105371777
|
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 |
rs58864803
|
KRT12;LOC105371777
|
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 |
rs58918655
|
KRT12;LOC105371777
|
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 |
rs59202432
|
KRT12;LOC105371777
|
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 |
rs62635290
|
KRT12;LOC105371777
|
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 |
rs57218384
|
KRT12;LOC105371777
|
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
|
0.730 |
GeneticVariation |
UNIPROT |
The clinical effects are markedly more severe than the phenotype usually associated with the Arg135Thr mutation within this motif, most frequently seen in European patients with MECD.
|
23222558 |
2013 |
rs57218384
|
KRT12;LOC105371777
|
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
|
0.730 |
GeneticVariation |
BEFREE |
To identify an allele-specific short interfering RNA (siRNA), against the common KRT12 mutation Arg135Thr in Meesmann epithelial corneal dystrophy (MECD) as a personalized approach to treatment.
|
23233254 |
2013 |
rs57218384
|
KRT12;LOC105371777
|
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
|
0.730 |
GeneticVariation |
BEFREE |
The clinical effects are markedly more severe than the phenotype usually associated with the Arg135Thr mutation within this motif, most frequently seen in European patients with MECD.
|
23222558 |
2013 |
rs886038212
|
KRT12;LOC105371777
|
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
|
0.730 |
GeneticVariation |
UNIPROT |
Severe Meesmann's epithelial corneal dystrophy phenotype due to a missense mutation in the helix-initiation motif of keratin 12.
|
23222558 |
2013 |
rs267607386
|
KRT12;LOC105371777
|
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
|
0.710 |
GeneticVariation |
UNIPROT |
Severe Meesmann's epithelial corneal dystrophy phenotype due to a missense mutation in the helix-initiation motif of keratin 12.
|
23222558 |
2013 |
rs58038639
|
KRT12;LOC105371777
|
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
|
0.710 |
GeneticVariation |
UNIPROT |
Severe Meesmann's epithelial corneal dystrophy phenotype due to a missense mutation in the helix-initiation motif of keratin 12.
|
23222558 |
2013 |
rs267607387
|
KRT12;LOC105371777
|
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 |
rs28936695
|
KRT12;LOC105371777
|
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 |
rs58162394
|
KRT12;LOC105371777
|
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 |
rs58343600
|
KRT12;LOC105371777
|
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 |
rs58864803
|
KRT12;LOC105371777
|
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 |