Three novel point mutations of the CYP21 gene detected in classical forms of congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Experimental and Clinical Endocrinology and Diabetes

Volumn 114, Issue 3, 2006, Pages 111-117

  Krone, Nils ^a,c   Riepe, F G ^a   Partsch, C J ^a   Vorhoff, W ^b   Bramswig J ^c   Sippell, W G ^a  

^a UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

^b Westfälische Wilhelms Universität Münster ^*

^c UNIVERSITY OF KIEL   (Germany)

Author keywords

21 hydroxylase deficiency; Congenital adrenal hyperplasia; CYP21

Indexed keywords

CORTODOXONE; DEOXYCORTICOSTERONE; FLUDROCORTISONE; HYDROCORTISONE; HYDROXYPROGESTERONE; PROGESTERONE; STEROID 21 MONOOXYGENASE;

ANIMAL CELL; ARTICLE; CASE REPORT; CELL STRAIN COS7; CONGENITAL ADRENAL HYPERPLASIA; DNA SEQUENCE; ENZYME ACTIVITY; FEMALE; FRAMESHIFT MUTATION; HUMAN; IN VITRO STUDY; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NEWBORN; NONHUMAN; POINT MUTATION; PRIORITY JOURNAL; STEROID 21 MONOOXYGENASE DEFICIENCY; STOP CODON; ULTRASOUND;

ADRENAL HYPERPLASIA, CONGENITAL; ANIMALS; CERCOPITHECUS AETHIOPS; COS CELLS; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; INFANT, NEWBORN; MALE; POINT MUTATION; SEQUENCE ANALYSIS, DNA; STEROID 21-HYDROXYLASE; TRANSFECTION;

EID: 33646447193     PISSN: 09477349     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2005-872841     Document Type: Article

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