rs28934592
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs28934592
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutants of 11beta-hydroxysteroid dehydrogenase (11-HSD2) with partial activity: improved correlations between genotype and biochemical phenotype in apparent mineralocorticoid excess.
|
10523339 |
1999 |
rs28934592
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Examination of genotype and phenotype relationships in 14 patients with apparent mineralocorticoid excess.
|
9661590 |
1998 |
rs28934592
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Human hypertension caused by mutations in the kidney isozyme of 11 beta-hydroxysteroid dehydrogenase.
|
7670488 |
1995 |
rs28934592
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Impaired protein stability of 11beta-hydroxysteroid dehydrogenase type 2: a novel mechanism of apparent mineralocorticoid excess.
|
17314322 |
2007 |
rs28934592
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Two homozygous mutations in the 11 beta-hydroxysteroid dehydrogenase type 2 gene in a case of apparent mineralocorticoid excess.
|
12788846 |
2003 |
rs28934592
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Genetic, biochemical, and clinical studies of patients with A328V or R213C mutations in 11betaHSD2 causing apparent mineralocorticoid excess.
|
10489390 |
1999 |
rs28934592
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A mutation in the cofactor-binding domain of 11beta-hydroxysteroid dehydrogenase type 2 associated with mineralocorticoid hypertension.
|
11238516 |
2001 |
rs28934592
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Several homozygous mutations in the gene for 11 beta-hydroxysteroid dehydrogenase type 2 in patients with apparent mineralocorticoid excess.
|
7593417 |
1995 |
rs28934592
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
"Molecular basis for hypertension in the ""type II variant"" of apparent mineralocorticoid excess."
|
9683587 |
1998 |
rs28934592
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
The codon 213 of the 11beta-hydroxysteroid dehydrogenase type 2 gene is a hot spot for mutations in apparent mineralocorticoid excess.
|
9851783 |
1998 |
rs28934592
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A mutation in the HSD11B2 gene in a family with apparent mineralocorticoid excess.
|
7608290 |
1995 |
rs28934592
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Together, these results indicate that this patient is a compound heterozygote for the mutation in the 11 beta HSD2 gene (R208H and R337H, delta Y338) and that these mutations inactivate the 11 beta HSD2 function and give rise to clinically manifest AME.
|
9398712 |
1997 |