Male pseudohermaphroditism caused by mutations of the human androgen receptor

Journal of Clinical Endocrinology and Metabolism

Volumn 84, Issue 10, 1999, Pages 3435-3441

  McPhaul, Michael J ^a   Griffin, James E ^a  

^a UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANDROGEN RECEPTOR;

AMINO ACID SUBSTITUTION; GENE MUTATION; HUMAN; MALE; MALE PSEUDOHERMAPHRODITISM; NOTE; OPEN READING FRAME; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN; RECEPTOR GENE; VIRILIZATION;

EID: 0033304593     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.84.10.3435     Document Type: Note

References (31)

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20. The androgen receptor in syndromes of androgen insensitivity and in prostate cancer
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22. Mutations in the ligand-binding domain of the androgen receptor gene cluster in two regions of the gene
23. Replacement of arginine 773 by cysteine or histidine in the human androgen receptor causes complete androgen insensitivity with different receptor phenotypes
24. 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
25. Substitution of valine-865 by methionine or leucine in the human androgen receptor causes complete or partial androgen insensitivity, respectively with distinct androgen receptor phenotypes
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31. 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