A novel mutation in the D-box of the androgen receptor gene (S597R) in two unrelated individuals is associated with both normal phenotype and severe PAIS

Hormone Research

Volumn 61, Issue 2, 2004, Pages 58-62

  Giwercman, Yvonne L ^a,b   Ivarsson, Sten A ^a   Richthoff, Jonas ^a   Lundin, Kristina B ^a   Giwercman, Aleksander ^a  

^a LUND UNIVERSITY HOSPITAL   (Sweden)

^b Malmö University Hospital   (Sweden)

Author keywords

Androgen insensitivity syndrome; Androgen receptor; D box; Mutation, S597R

Indexed keywords

ANDROGEN RECEPTOR; ANDROSTANOLONE;

ADULT; ANDROGEN INSENSITIVITY SYNDROME; ARTICLE; CASE REPORT; CHILDHOOD; CODON; CRYPTORCHISM; DISEASE SEVERITY; GENE MUTATION; GENE SEQUENCE; HUMAN; INFANCY; MALE; MASCULINITY; NEWBORN; PENIS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN VARIANT; TREATMENT OUTCOME;

EID: 1542313862     PISSN: 03010163     EISSN: None     Source Type: Journal    
DOI: 10.1159/000075240     Document Type: Article

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