rs137852577
×
Entrez Id:
367
Gene Symbol:
AR
AR
Androgen-Insensitivity Syndrome
T
0.810
CausalMutation
CLINVAR
Androgen receptor mutations associated with androgen insensitivity syndrome: a high content analysis approach leading to personalized medicine.
20011049
2009
rs137852577
×
Entrez Id:
367
Gene Symbol:
AR
AR
Androgen-Insensitivity Syndrome
T
0.810
CausalMutation
CLINVAR
Novel and recurrent mutations in patients with androgen insensitivity syndromes.
15925895
2005
rs137852577
×
Entrez Id:
367
Gene Symbol:
AR
AR
Androgen-Insensitivity Syndrome
T
0.810
CausalMutation
CLINVAR
Dissecting phenotypic variation among AIS patients.
16083860
2005
rs137852577
×
Entrez Id:
367
Gene Symbol:
AR
AR
Androgen-Insensitivity Syndrome
0.810
GeneticVariation
UNIPROT
Concordance of phenotypic expression and gender identity in a large kindred with a mutation in the androgen receptor.
14756668
2004
rs137852577
×
Entrez Id:
367
Gene Symbol:
AR
AR
Androgen-Insensitivity Syndrome
T
0.810
CausalMutation
CLINVAR
Male fertility is compatible with an Arg(840)Cys substitution in the AR in a large Chinese family affected with divergent phenotypes of AR insensitivity syndrome.
11788673
2002
rs137852577
×
Entrez Id:
367
Gene Symbol:
AR
AR
Androgen-Insensitivity Syndrome
0.810
GeneticVariation
UNIPROT
Eight novel mutations of the androgen receptor gene in patients with androgen insensitivity syndrome.
11587068
2001
rs137852577
×
Entrez Id:
367
Gene Symbol:
AR
AR
Androgen-Insensitivity Syndrome
0.810
GeneticVariation
UNIPROT
Point mutations in the steroid-binding domain of the androgen receptor gene of five Japanese patients with androgen insensitivity syndrome.
10458483
1999
rs137852577
×
Entrez Id:
367
Gene Symbol:
AR
AR
Androgen-Insensitivity Syndrome
0.810
GeneticVariation
UNIPROT
Androgen receptor gene mutations in 46,XY females with germ cell tumours.
10221692
1999
rs137852577
×
Entrez Id:
367
Gene Symbol:
AR
AR
Androgen-Insensitivity Syndrome
T
0.810
CausalMutation
CLINVAR
We studied two mutants associated with partial AIS : G743V and R840C .
9768671
1998
rs137852577
×
Entrez Id:
367
Gene Symbol:
AR
AR
Androgen-Insensitivity Syndrome
0.810
GeneticVariation
UNIPROT
One additional mutation at exon A amplifies thermolability of androgen receptor in a case with complete androgen insensitivity syndrome.
9610419
1998
rs137852577
×
Entrez Id:
367
Gene Symbol:
AR
AR
Androgen-Insensitivity Syndrome
0.810
GeneticVariation
UNIPROT
Molecular analysis of the androgen receptor gene in 4 patients with complete androgen insensitivity.
9544375
1998
rs137852577
×
Entrez Id:
367
Gene Symbol:
AR
AR
Androgen-Insensitivity Syndrome
0.810
GeneticVariation
UNIPROT
Mutations of androgen receptor gene in Brazilian patients with male pseudohermaphroditism.
9698822
1998
rs137852577
×
Entrez Id:
367
Gene Symbol:
AR
AR
Androgen-Insensitivity Syndrome
0.810
GeneticVariation
UNIPROT
Androgen receptor point mutations as the underlying molecular defect in 2 patients with androgen insensitivity syndrome.
9302173
1997
rs137852577
×
Entrez Id:
367
Gene Symbol:
AR
AR
Androgen-Insensitivity Syndrome
0.810
GeneticVariation
UNIPROT
The clinical and molecular spectrum of androgen insensitivity syndromes.
8723113
1996
rs137852577
×
Entrez Id:
367
Gene Symbol:
AR
AR
Androgen-Insensitivity Syndrome
0.810
GeneticVariation
UNIPROT
Androgen insensitivity syndrome due to new mutations in the DNA-binding domain of the androgen receptor.
8809734
1996
rs137852577
×
Entrez Id:
367
Gene Symbol:
AR
AR
Androgen-Insensitivity Syndrome
T
0.810
CausalMutation
CLINVAR
Functional analysis of six androgen receptor mutations identified in patients with partial androgen insensitivity syndrome.
8824883
1996
rs137852577
×
Entrez Id:
367
Gene Symbol:
AR
AR
Androgen-Insensitivity Syndrome
0.810
GeneticVariation
UNIPROT
Clinical and biochemical investigations and molecular analysis of subjects with mutations in the androgen receptor gene.
9039340
1996
rs137852577
×
Entrez Id:
367
Gene Symbol:
AR
AR
Androgen-Insensitivity Syndrome
0.810
GeneticVariation
UNIPROT
Androgen receptor defects: historical, clinical, and molecular perspectives.
7671849
1995
rs137852577
×
Entrez Id:
367
Gene Symbol:
AR
AR
Androgen-Insensitivity Syndrome
0.810
GeneticVariation
UNIPROT
Leu-676-Pro mutation of the androgen receptor causes complete androgen insensitivity syndrome in a large Hutterite kindred.
7537149
1995
rs137852577
×
Entrez Id:
367
Gene Symbol:
AR
AR
Androgen-Insensitivity Syndrome
0.810
GeneticVariation
UNIPROT
Human androgen insensitivity due to point mutations encoding amino acid substitutions in the androgen receptor steroid-binding domain.
7581399
1995
rs137852577
×
Entrez Id:
367
Gene Symbol:
AR
AR
Androgen-Insensitivity Syndrome
T
0.810
CausalMutation
CLINVAR
Substitution of arginine-839 by cysteine or histidine in the androgen receptor causes different receptor phenotypes in cultured cells and coordinate degrees of clinical androgen resistance.
8040309
1994
rs137852577
×
Entrez Id:
367
Gene Symbol:
AR
AR
Androgen-Insensitivity Syndrome
0.810
GeneticVariation
UNIPROT
Substitution of arginine-839 by cysteine or histidine in the androgen receptor causes different receptor phenotypes in cultured cells and coordinate degrees of clinical androgen resistance.
8040309
1994
rs137852577
×
Entrez Id:
367
Gene Symbol:
AR
AR
Androgen-Insensitivity Syndrome
0.810
GeneticVariation
UNIPROT
A practical approach to the detection of androgen receptor gene mutations and pedigree analysis in families with x-linked androgen insensitivity.
7970939
1994
rs137852577
×
Entrez Id:
367
Gene Symbol:
AR
AR
Androgen-Insensitivity Syndrome
0.810
GeneticVariation
UNIPROT
A single-base substitution in exon 6 of the androgen receptor gene causing complete androgen insensitivity: the mutated receptor fails to transactivate but binds to DNA in vitro.
8281140
1993
rs137852577
×
Entrez Id:
367
Gene Symbol:
AR
AR
Androgen-Insensitivity Syndrome
0.810
GeneticVariation
UNIPROT
Single strand conformation polymorphism analysis of androgen receptor gene mutations in patients with androgen insensitivity syndromes: application for diagnosis, genetic counseling, and therapy.
8325950
1993