Two novel mutations found in a patient with 17α-hydroxylase enzyme deficiency

Journal of Clinical Endocrinology and Metabolism

Volumn 91, Issue 10, 2006, Pages 4179-4182

  Ergun Longmire, Berrin ^a   Auchus, Richard ^b   Papari Zareei, Mahboubeh ^b   Tansil, Susan ^a   Wilson, Robert C ^a   New, Maria I ^a  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CONJUGATED ESTROGEN; CYTOCHROME P450 17; DEXAMETHASONE; ESTRADIOL; MEDROXYPROGESTERONE ACETATE; PREDNISONE; STEROID 17ALPHA MONOOXYGENASE;

ADULT; ARTICLE; CASE REPORT; CLINICAL FEATURE; CONGENITAL ADRENAL HYPERPLASIA; DNA SEQUENCE; ECHOGRAPHY; ENZYME ACTIVITY; ENZYME DEFICIENCY; EXON; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HETEROZYGOSITY; HUMAN; HUMAN CELL; LABORATORY TEST; OVARY POLYCYSTIC DISEASE; PATIENT COMPLIANCE; PHENOTYPE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; UTERUS BICORNIS;

EID: 33749553506     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2006-0469     Document Type: Article

References (24)

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