rs121912978
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A compound heterozygote case of type II aldosterone synthase deficiency.
|
12788848 |
2003 |
rs72554626
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A compound heterozygote case of type II aldosterone synthase deficiency.
|
12788848 |
2003 |
rs121912978
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Isolated aldosterone synthase deficiency caused by simultaneous E198D and V386A mutations in the CYP11B2 gene.
|
9814506 |
1998 |
rs121912978
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutation THR-185 ILE is associated with corticosterone methyl oxidase deficiency type II.
|
9625333 |
1998 |
rs72554626
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Isolated aldosterone synthase deficiency caused by simultaneous E198D and V386A mutations in the CYP11B2 gene.
|
9814506 |
1998 |
rs72554626
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutation THR-185 ILE is associated with corticosterone methyl oxidase deficiency type II.
|
9625333 |
1998 |
rs121912978
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Congenitally defective aldosterone biosynthesis in humans: the involvement of point mutations of the P-450C18 gene (CYP11B2) in CMO II deficient patients.
|
1346492 |
1992 |
rs121912978
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in the human CYP11B2 (aldosterone synthase) gene causing corticosterone methyloxidase II deficiency.
|
1594605 |
1992 |
rs72554626
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in the human CYP11B2 (aldosterone synthase) gene causing corticosterone methyloxidase II deficiency.
|
1594605 |
1992 |
rs72554626
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Congenitally defective aldosterone biosynthesis in humans: the involvement of point mutations of the P-450C18 gene (CYP11B2) in CMO II deficient patients.
|
1346492 |
1992 |
rs104894072
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
A compound heterozygote case of type II aldosterone synthase deficiency.
|
12788848 |
2003 |
rs28931609
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
A compound heterozygote case of type II aldosterone synthase deficiency.
|
12788848 |
2003 |
rs104894072
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Isolated aldosterone synthase deficiency caused by simultaneous E198D and V386A mutations in the CYP11B2 gene.
|
9814506 |
1998 |
rs104894072
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Mutation THR-185 ILE is associated with corticosterone methyl oxidase deficiency type II.
|
9625333 |
1998 |
rs28931609
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Mutation THR-185 ILE is associated with corticosterone methyl oxidase deficiency type II.
|
9625333 |
1998 |
rs28931609
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Isolated aldosterone synthase deficiency caused by simultaneous E198D and V386A mutations in the CYP11B2 gene.
|
9814506 |
1998 |
rs104894072
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Mutations in the human CYP11B2 (aldosterone synthase) gene causing corticosterone methyloxidase II deficiency.
|
1594605 |
1992 |
rs104894072
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Congenitally defective aldosterone biosynthesis in humans: the involvement of point mutations of the P-450C18 gene (CYP11B2) in CMO II deficient patients.
|
1346492 |
1992 |
rs28931609
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Molecular genetic analysis of the P-450C18 gene is three patients from three different families affected with CMO II deficiency has indicated that a point mutation of CGG----TGG (181Arg----Trp) in exon 3 and one of GTG----GCG (386Val----Ala) in exon 7 occur exclusively in the gene of the patients.
|
1346492 |
1992 |
rs28931609
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
All individuals affected with CMO-II deficiency were homozygous for both mutations, whereas eight asymptomatic subjects were homozygous for R181W alone and three were homozygous for V386A alone.
|
1594605 |
1992 |
rs61757294
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|