CYP11B1 mutations causing congenital adrenal hyperplasia due to 11β- hydroxylase deficiency

Journal of Clinical Endocrinology and Metabolism

Volumn 81, Issue 8, 1996, Pages 2896-2901

  Geley, Stephan ^a,e   Kapelari, Klaus ^a   Jöhrer, Karin ^a   Peter, Michael ^c   Glatzl, Josef ^a   Vierhapper, Heinrich ^b   Schwarz, Siegfried ^a   Helmberg, Arno ^a   Sippell, Wolfgang G ^c   White, Perrin C ^d   Kofler, Reinhard ^a  

^a UNIVERSITY OF INNSBRUCK   (Austria)

^b MEDICAL UNIVERSITY OF VIENNA   (Austria)

^c UNIVERSITY OF KIEL   (Germany)

^d UNIVERSITY OF TEXAS AT DALLAS   (United States)

^e INNSBRUCK MEDICAL UNIVERSITY   (Austria)

Author keywords

[No Author keywords available]

Indexed keywords

STEROID 11BETA MONOOXYGENASE;

ADOLESCENT; ARTICLE; CHILD; CLINICAL ARTICLE; CODON; CONGENITAL ADRENAL HYPERPLASIA; ENZYME ACTIVITY; FEMALE; GENE DELETION; GENE MUTATION; GENETIC COUNSELING; HETEROZYGOTE; HOMOZYGOTE; HUMAN; INFANT; MALE; MISSENSE MUTATION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; STEROID 21 MONOOXYGENASE DEFICIENCY;

ADRENAL HYPERPLASIA, CONGENITAL; BASE SEQUENCE; CHILD; CODON; DNA TRANSPOSABLE ELEMENTS; FEMALE; HUMANS; IRAN; JEWS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; OLIGONUCLEOTIDE PROBES; PRENATAL DIAGNOSIS; STEROID 11-BETA-HYDROXYLASE;

IRANIA;

EID: 10144250291     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.81.8.2896     Document Type: Article

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