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

Human Molecular Genetics

Volumn 6, Issue 11, 1997, Pages 1829-1834

  Joehrer, Karin ^e   Geley, Stephan ^e   Strasser Wozak, Elisabeth M C ^e   Azziz, Ricardo ^a   Wollmann, Hartmut A ^b   Schmitt, Klaus ^c   Kofler, Reinhard ^e   White, Perrin C ^d  

^a UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

^b UNIVERSITY OF TÜBINGEN   (Germany)

^c KEPLER UNIVERSITY HOSPITAL   (Austria)

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

^e UNIVERSITY OF INNSBRUCK   (Austria)

Author keywords

[No Author keywords available]

Indexed keywords

ANDROGEN; HYDROCORTISONE; STEROID 11BETA MONOOXYGENASE;

ARTICLE; CASE REPORT; CONGENITAL ADRENAL HYPERPLASIA; ENZYME ACTIVITY; ENZYME DEFICIENCY; EXON; FEMALE; GENE MUTATION; HIRSUTISM; HUMAN; HYPERTENSION; MALE; MISSENSE MUTATION; NONSENSE MUTATION; PRIORITY JOURNAL;

ADRENAL GLANDS; ADRENAL HYPERPLASIA, CONGENITAL; ADULT; ANIMALS; BASE SEQUENCE; CLONING, MOLECULAR; COS CELLS; DNA MUTATIONAL ANALYSIS; DNA, COMPLEMENTARY; FEMALE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTAGENESIS, SITE-DIRECTED; MUTATION; PEDIGREE; STEROID 11-BETA-HYDROXYLASE;

EID: 0030732003     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/6.11.1829     Document Type: Article

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