Steroid 21-hydroxylase deficiency: Mutational spectrum in Denmark, three novel mutations, and in vitro expression analysis

Human Mutation

Volumn 13, Issue 6, 1999, Pages 482-486

  Ohlsson, Gita ^a,b   Müller, Jørn ^a   Skakkebæk, Niels Erik ^a   Schwartz, Marianne ^a  

^a Rigshospitalet   (Denmark)

^b University Hospital of Copenhagen ^*  (Denmark)

Author keywords

21 Hydroxylase deficiency; CAH; Congenital adrenal hyperplasia; CYP21; DNA diagnosis; In vitro expression

Indexed keywords

HYDROXYPROGESTERONE; PROGESTERONE; STEROID 21 MONOOXYGENASE;

ARTICLE; DNA DETERMINATION; ENZYME ACTIVITY; ENZYME DEFICIENCY; ENZYME ISOLATION; EXON; GENE EXPRESSION; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HUMAN CELL; INTRON; MAJOR CLINICAL STUDY; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PSEUDOGENE; SEGREGATION ANALYSIS; SITE DIRECTED MUTAGENESIS;

ADRENAL HYPERPLASIA, CONGENITAL; ANIMALS; COS CELLS; DENMARK; DNA, COMPLEMENTARY; FRAMESHIFT MUTATION; GENE DELETION; GENE EXPRESSION; GENOTYPE; HUMANS; MUTAGENESIS, SITE-DIRECTED; MUTATION; POINT MUTATION; STEROID 21-HYDROXYLASE; TRANSFECTION;

EID: 0344085885     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1999)13:6<482::AID-HUMU8>3.0.CO;2-0     Document Type: Article

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