Molecular features and clinical phenotypes in androgen insensitivity syndrome in the absence and presence of androgen receptor gene mutations

Journal of Molecular Medicine

Volumn 83, Issue 12, 2005, Pages 1005-1013

  Holterhus, P M ^a,e,f   Werner, R ^a   Hoppe, U ^a   Bassler, J ^a   Korsch, E ^b   Ranke, M B ^c   Dorr H G ^d   Hiort, O ^a,e  

^a UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

^b UNIVERSITY HOSPITAL OF COLOGNE   (Germany)

^c UNIVERSITY OF TÜBINGEN   (Germany)

^d UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^e UNIVERSITY OF LÜBECK   (Germany)

^f UNIVERSITY OF KIEL   (Germany)

Author keywords

Androgen insensitivity syndrome; Androgen receptor; Male pseudohermaphroditism; Mutation

Indexed keywords

ANDROGEN RECEPTOR; MESSENGER RNA;

ADOLESCENT; ANDROGEN BLOOD LEVEL; ANDROGEN INSENSITIVITY SYNDROME; ARTICLE; CASE REPORT; CODON; CONFORMATION; DNA HYBRIDIZATION; DNA SEQUENCE; DNA SPLICING; EXON; FEMALE; FIBROBLAST CULTURE; FRAMESHIFT MUTATION; GENE DELETION; GENE EXPRESSION; GENE MUTATION; GENETIC POLYMORPHISM; HUMAN; HUMAN TISSUE; IMMUNOBLOTTING; INFANT; INTRON; KARYOTYPE 46,XY; LIGAND BINDING; MALE; MOLECULAR BIOLOGY; MOLECULAR GENETICS; MUTAGENESIS; NORTHERN BLOTTING; PHENOTYPE; PRESCHOOL CHILD; QUANTITATIVE ANALYSIS; RECEPTOR GENE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SKIN FIBROBLAST; VIRILIZATION; WESTERN BLOTTING;

ANDROGEN-INSENSITIVITY SYNDROME; BLOTTING, WESTERN; CELLS, CULTURED; CHILD, PRESCHOOL; EXONS; FIBROBLASTS; HUMANS; INFANT, NEWBORN; KARYOTYPING; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; PHENOTYPE; PSEUDOHERMAPHRODITISM; RECEPTORS, ANDROGEN; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA; ULTRASONOGRAPHY;

EID: 28544432415     PISSN: 09462716     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00109-005-0704-y     Document Type: Article

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