rs137852576
×
Entrez Id:
367
Gene Symbol:
AR
AR
Reifenstein Syndrome
0.710
GeneticVariation
UNIPROT
Concordance of phenotypic expression and gender identity in a large kindred with a mutation in the androgen receptor.
14756668
2004
rs137852576
×
Entrez Id:
367
Gene Symbol:
AR
AR
Reifenstein Syndrome
0.710
GeneticVariation
UNIPROT
Eight novel mutations of the androgen receptor gene in patients with androgen insensitivity syndrome.
11587068
2001
rs137852576
×
Entrez Id:
367
Gene Symbol:
AR
AR
Reifenstein Syndrome
0.710
GeneticVariation
BEFREE
Arg607-Gln and Arg608-Lys point mutations in the DNA-binding domain of the AR gene have been associated with male breast cancer in partial androgen insensitivity syndrome .
10221692
1999
rs137852576
×
Entrez Id:
367
Gene Symbol:
AR
AR
Reifenstein Syndrome
0.710
GeneticVariation
UNIPROT
Directed pharmacological therapy of ambiguous genitalia due to an androgen receptor gene mutation.
10543676
1999
rs137852576
×
Entrez Id:
367
Gene Symbol:
AR
AR
Reifenstein Syndrome
0.710
GeneticVariation
UNIPROT
Response to androgen treatment in a patient with partial androgen insensitivity and a mutation in the deoxyribonucleic acid-binding domain of the androgen receptor.
9543136
1998
rs137852576
×
Entrez Id:
367
Gene Symbol:
AR
AR
Reifenstein Syndrome
0.710
GeneticVariation
UNIPROT
Trafficking of androgen receptor mutants fused to green fluorescent protein: a new investigation of partial androgen insensitivity syndrome.
9768671
1998
rs137852576
×
Entrez Id:
367
Gene Symbol:
AR
AR
Reifenstein Syndrome
0.710
GeneticVariation
UNIPROT
Androgen receptor point mutations as the underlying molecular defect in 2 patients with androgen insensitivity syndrome.
9302173
1997
rs137852576
×
Entrez Id:
367
Gene Symbol:
AR
AR
Reifenstein Syndrome
0.710
GeneticVariation
UNIPROT
A novel missense mutation in the amino-terminal domain of the human androgen receptor gene in a family with partial androgen insensitivity syndrome causes reduced efficiency of protein translation.
8823308
1996
rs137852576
×
Entrez Id:
367
Gene Symbol:
AR
AR
Reifenstein Syndrome
0.710
GeneticVariation
UNIPROT
Functional analysis of six androgen receptor mutations identified in patients with partial androgen insensitivity syndrome.
8824883
1996
rs137852576
×
Entrez Id:
367
Gene Symbol:
AR
AR
Reifenstein Syndrome
0.710
GeneticVariation
UNIPROT
Clinical and biochemical investigations and molecular analysis of subjects with mutations in the androgen receptor gene.
9039340
1996
rs137852576
×
Entrez Id:
367
Gene Symbol:
AR
AR
Reifenstein Syndrome
0.710
GeneticVariation
UNIPROT
A single amino acid exchange abolishes dimerization of the androgen receptor and causes Reifenstein syndrome.
7649358
1995
rs137852576
×
Entrez Id:
367
Gene Symbol:
AR
AR
Reifenstein Syndrome
0.710
GeneticVariation
UNIPROT
Amino acid substitutions in the hormone-binding domain of the human androgen receptor alter the stability of the hormone receptor complex.
7929841
1994
rs137852576
×
Entrez Id:
367
Gene Symbol:
AR
AR
Reifenstein Syndrome
0.710
GeneticVariation
UNIPROT
Characterization of mutant androgen receptors causing partial androgen insensitivity syndrome.
8126121
1994
rs137852576
×
Entrez Id:
367
Gene Symbol:
AR
AR
Reifenstein Syndrome
0.710
GeneticVariation
UNIPROT
Molecular characterization of the androgen receptor gene in boys with hypospadias.
8033918
1994
rs137852576
×
Entrez Id:
367
Gene Symbol:
AR
AR
Reifenstein Syndrome
0.710
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
rs137852576
×
Entrez Id:
367
Gene Symbol:
AR
AR
Reifenstein Syndrome
0.710
GeneticVariation
UNIPROT
A single amino acid substitution (gly743 --> val) in the steroid-binding domain of the human androgen receptor leads to Reifenstein syndrome.
8325932
1993
rs137852576
×
Entrez Id:
367
Gene Symbol:
AR
AR
Reifenstein Syndrome
0.710
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
rs137852576
×
Entrez Id:
367
Gene Symbol:
AR
AR
Reifenstein Syndrome
0.710
GeneticVariation
UNIPROT
Mutations of the androgen receptor gene identified in perineal hypospadias.
8097257
1993
rs137852576
×
Entrez Id:
367
Gene Symbol:
AR
AR
Reifenstein Syndrome
0.710
GeneticVariation
UNIPROT
Amino acid substitutions in the DNA-binding domain of the human androgen receptor are a frequent cause of receptor-binding positive androgen resistance.
1316540
1992
rs137852576
×
Entrez Id:
367
Gene Symbol:
AR
AR
Reifenstein Syndrome
0.710
GeneticVariation
UNIPROT
Androgen receptor gene mutations identified by SSCP in fourteen subjects with androgen insensitivity syndrome.
1307250
1992
rs137852576
×
Entrez Id:
367
Gene Symbol:
AR
AR
Reifenstein Syndrome
0.710
GeneticVariation
UNIPROT
Point mutations detected in the androgen receptor gene of three men with partial androgen insensitivity syndrome.
1424203
1992