Homozygous mutation G539R in the gene for P450 oxidoreductase in a family previously diagnosed as having 17,20-lyase deficiency

Journal of Clinical Endocrinology and Metabolism

Volumn 93, Issue 9, 2008, Pages 3584-3588

  Hershkovitz, Eli ^a   Parvari, Ruthi ^b   Wudy, Stefan A ^c   Hartmann, Michaela F ^c   Gomes, Larissa G ^d   Loewental, Neta ^a   Miller, Walter L ^d  

^a BEN GURION UNIVERSITY OF THE NEGEV   (Israel)

^b BEN GURION UNIVERSITY OF THE NEGEV   (Israel)

^c JUSTUS LIEBIG UNIVERSITY   (Germany)

^d UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CORTICOTROPIN; CYTOCHROME P450 17; CYTOCHROME P450 17A1; CYTOCHROME P450 REDUCTASE; HORMONE; STEROID 17,20 LYASE; STEROID 21 MONOOXYGENASE; UNCLASSIFIED DRUG;

17,20 LYASE DEFICIENCY; ARTICLE; CLINICAL ARTICLE; ENZYME DEFICIENCY; ENZYME ISOLATION; EXON; GENETIC ANALYSIS; HORMONE BLOOD LEVEL; HUMAN; MALE; MASS FRAGMENTOGRAPHY; METABOLITE; MUTATION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; STEROID METABOLISM; STIMULATION;

EID: 51649127549     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2008-0051     Document Type: Article

References (20)

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