An androgen receptor gene mutation (E653K) in a family with congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency as well as in partial androgen insensitivity

Journal of Clinical Endocrinology and Metabolism

Volumn 87, Issue 6, 2002, Pages 2623-2628

  Giwercman, Yvonne Lundberg ^a   Nordenskjöld, Agneta ^a   Martin Ritzen E ^b   Nilsson, Karl Olof ^b   Ivarsson, Sten A ^b   Grandell, Ulla ^a   Wedell, Anna ^a,b  

^a LUND UNIVERSITY HOSPITAL   (Sweden)

^b KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

ANDROGEN RECEPTOR; STEROID 21 MONOOXYGENASE;

ANDROGEN INSENSITIVITY SYNDROME; ARTICLE; CLINICAL ARTICLE; CONCENTRATION RESPONSE; CONGENITAL ADRENAL HYPERPLASIA; CONTROLLED STUDY; CYP21 GENE; FAMILIAL DISEASE; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENITAL MALFORMATION; GENITAL SYSTEM; GENOTYPE; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPERANDROGENISM; INHERITANCE; MALE; NUCLEOTIDE REPEAT; PRIORITY JOURNAL; RECEPTOR GENE; STEROID 21 MONOOXYGENASE DEFICIENCY; SWEDEN; SYMPTOM; TRANSACTIVATION; VIRILIZATION; X CHROMOSOME INACTIVATION;

EID: 0036075282     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jcem.87.6.8518     Document Type: Article

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