rs57510142
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Ichthyosis bullosa of Siemens: its correct diagnosis facilitated by molecular genetic testing.
|
15949009 |
2005 |
rs57510142
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens.
|
11531804 |
2001 |
rs57510142
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel asparagine-->aspartic acid mutation in the rod 1A domain in keratin 2e in a Japanese family with ichthyosis bullosa of Siemens.
|
10620137 |
2000 |
rs57510142
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Hot spot mutations in keratin 2e suggest a correlation between genotype and phenotype in patients with ichthyosis bullosa of Siemens.
|
10688369 |
2000 |
rs57510142
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel mutation in the 2B domain of keratin 2e causing ichthyosis bullosa of Siemens.
|
11167982 |
2000 |
rs57510142
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Ichthyosis bullosa of Siemens resulting from a novel missense mutation near the helix termination motif of the keratin 2e gene.
|
10564334 |
1999 |
rs57510142
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Ichthyosis bullosa of Siemens: report of a family with evidence of a keratin 2e mutation, and a review of the literature.
|
10233323 |
1999 |
rs57510142
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel mutation in the 1A domain of keratin 2e in ichthyosis bullosa of Siemens.
|
10084318 |
1999 |
rs57510142
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A glutamate to lysine mutation at the end of 2B rod domain of keratin 2e gene in ichthyosis bullosa of Siemens.
|
9833038 |
1998 |
rs57510142
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Genomic organization and fine mapping of the keratin 2e gene (KRT2E): K2e V1 domain polymorphism and novel mutations in ichthyosis bullosa of Siemens.
|
9804344 |
1998 |
rs57510142
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel threonine --> proline mutation at the end of 2B rod domain in the keratin 2e chain in ichthyosis bullosa of Siemens.
|
9204966 |
1997 |
rs57510142
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A new keratin 2e mutation in ichthyosis bullosa of Siemens.
|
9036938 |
1997 |
rs57510142
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Ichthyosis bullosa of Siemens--a disease involving keratin 2e.
|
7521371 |
1994 |
rs57510142
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Ichthyosis bullosa of Siemens is caused by mutations in the keratin 2e gene.
|
8077693 |
1994 |
rs57510142
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens.
|
7524919 |
1994 |
rs57510142
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
|
|
|