Identification of heterozygotic carriers of 21-hydroxylase deficiency: Sensitivity of ACTH stimulation tests

American Journal of Medical Genetics

Volumn 76, Issue 4, 1998, Pages 337-342

  Witchel, Selma F ^a   Lee, Peter A ^a  

^a CHILDREN S HOSPITAL OF PITTSBURGH   (United States)

Author keywords

21 hydroxylase deficiency; ACTH stimulation tests; Congenital adrenal hyperplasia; Heterozygotic carriers; Mutation detection

Indexed keywords

CORTICOTROPIN; HYDROCORTISONE; HYDROXYPROGESTERONE; STEROID 21 MONOOXYGENASE;

ADULT; ARTICLE; CLINICAL ARTICLE; CONGENITAL ADRENAL HYPERPLASIA; CONTROLLED STUDY; CORTICOTROPIN TEST; FEMALE; GENE MUTATION; HETEROZYGOTE DETECTION; HUMAN; MALE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RELATIVE; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SINGLE STRAND CONFORMATION POLYMORPHISM;

17-ALPHA-HYDROXYPROGESTERONE; ADRENAL HYPERPLASIA, CONGENITAL; ADRENOCORTICOTROPIC HORMONE; FEMALE; GENOTYPE; HETEROZYGOTE DETECTION; HUMANS; MALE; MUTATION; OLIGONUCLEOTIDES; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PREDICTIVE VALUE OF TESTS; SENSITIVITY AND SPECIFICITY; STEROID 21-HYDROXYLASE;

EID: 0032053606     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19980401)76:4<337::AID-AJMG9>3.0.CO;2-M     Document Type: Article

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