Mutation R96W in Cytochrome P450c17 Gene Causes Combined 17α-Hydroxylase/17-20-Lyase Deficiency in Two French Canadian Patients

Journal of Clinical Endocrinology and Metabolism

Volumn 81, Issue 1, 1996, Pages 264-268

  Laflamme, Nathalie ^a   Leblanc, Jean Francois ^a   Mailloux, Jacques ^b   Faure, Nacia ^b   Labrie, Fernand ^a   Simard, Jacques ^a,b,c  

^a UNIVERSITÉ LAVAL   (Canada)

^b LAVAL UNIVERSITY   (Canada)

^c BRISTOL MYERS SQUIBB   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME P450; STEROID 11BETA MONOOXYGENASE; STEROID 17,20 LYASE; STEROID 17ALPHA MONOOXYGENASE; STEROID 21 MONOOXYGENASE;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; CONGENITAL ADRENAL HYPERPLASIA; ENZYME DEFICIENCY; FEMALE; GENE MUTATION; HUMAN; KARYOTYPE 46,XY; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; STEROIDOGENESIS;

ADOLESCENT; ADULT; ALDEHYDE-LYASES; BASE SEQUENCE; CYTOCHROME P-450 ENZYME SYSTEM; DEHYDROEPIANDROSTERONE; FEMALE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; STEROID 17-ALPHA-HYDROXYLASE;

EID: 0030023419     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jcem.81.1.8550762     Document Type: Article

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