Complete androgen insensitivity caused by a new frameshift deletion of two base pairs in exon 1 of the human androgen receptor gene

Journal of Clinical Endocrinology and Metabolism

Volumn 84, Issue 5, 1999, Pages 1751-1753

  Thiele, Brigitta ^a   Weidemann, Wolfgang ^a   Schnabel, Doris ^b   Romalo, Gabriela ^b   Schweikert, Hans Udo ^b   Spindler, Klaus Dieter ^c  

^a HEINRICH HEINE UNIVERSITY   (Germany)

^b UNIVERSITY OF BONN   (Germany)

^c UNIVERSITY OF ULM   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ANDROGEN RECEPTOR; LUTEINIZING HORMONE; STEROID 5ALPHA REDUCTASE; TESTOSTERONE;

ADULT; ANDROGEN INSENSITIVITY SYNDROME; ARTICLE; BASE PAIRING; CASE REPORT; CODON; ENZYME ACTIVITY; EXON; FEMALE; FIBROBLAST CULTURE; FRAMESHIFT MUTATION; GENE DELETION; HORMONE RECEPTOR INTERACTION; HUMAN; HUMAN CELL; LUTEINIZING HORMONE BLOOD LEVEL; PRIORITY JOURNAL; RECEPTOR GENE; SEQUENCE ANALYSIS; SKIN FIBROBLAST; TESTOSTERONE BLOOD LEVEL;

EID: 0033349357     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.84.5.1751     Document Type: Article

References (15)

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13. A single base deletion in the Tfm androgen receptor creates a short-lived messenger RNA that directs internal translation initiation
14. A frame-shift mutation in the androgen receptor gene causes complete androgen insensitivity in the testicular-feminized mouse
15. Aberrant splicing of androgen receptor mRNA results in synthesis of a nonfunctional receptor protein in a patient with androgen insensitivity