Steroid 17α-hydroxylase deficiency: Functional characterization of four mutations (A174E, V178D, R440C, L465P) in the CYP17A1 gene

Journal of Clinical Endocrinology and Metabolism

Volumn 94, Issue 8, 2009, Pages 3058-3064

  Dhir, Vivek ^a   Reisch, Nicole ^a   Bleicken, Caroline M ^a   Lebl, Jan ^b   Kamrath, Clemens ^c   Schwarz, Hans Peter ^d   Grötzinger, Joachim ^e   Sippell, Wolfgang G ^f   Riepe, Felix G ^f   Arlt, Wiebke ^a   Krone, Nils ^a  

^a UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^b CHARLES UNIVERSITY   (Czech Republic)

^c Zentrum für Kinder und Jugendmedizin   (Germany)

^d LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^e UNIVERSITY OF KIEL   (Germany)

^f UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME P450 17; CYTOCHROME P450 17 A1; CYTOCHROME P450 2B4; ESTROGEN; HYDROCORTISONE; STEROID 17,20 LYASE; STEROID 17ALPHA MONOOXYGENASE; UNCLASSIFIED DRUG;

ADOLESCENT; AMENORRHEA; ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; ENZYME KINETICS; FEMALE; GENE MUTATION; GENE STRUCTURE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HYPERTENSION; MICROSOME; MUTATIONAL ANALYSIS; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SEXUAL DEVELOPMENT; STEROID 17ALPHA MONOOXYGENASE DEFICIENCY; STEROID 21 MONOOXYGENASE DEFICIENCY; TALL STATURE; CHEMICAL STRUCTURE; CHEMISTRY; COMPUTER SIMULATION; CONGENITAL ADRENAL HYPERPLASIA; GENETICS; MUTATION; PHYSIOLOGY;

ALIAS;

ADRENAL HYPERPLASIA, CONGENITAL; CHILD; CHILD, PRESCHOOL; COMPUTER SIMULATION; FEMALE; HUMANS; MODELS, MOLECULAR; MUTATION; STEROID 17-ALPHA-HYDROXYLASE;

EID: 68549132307     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2009-0172     Document Type: Article

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