CYP21 and CYP21P variability in steroid 21-hydroxylase deficiency patients and in the general population in the Netherlands

European Journal of Human Genetics

Volumn 8, Issue 11, 2000, Pages 827-836

  Koppens, Paul F J ^a   Hoogenboezem, Theo ^a   Degenhart, Herman J ^a  

^a SOPHIA CHILDREN S HOSPITAL   (Netherlands)

Author keywords

Congenital adrenal hyperplasia; CYP21; CYP21P; Evolution; Hybrid genes; Mutation; Netherlands; Steroid 21 hydroxylase deficiency

Indexed keywords

ASPARAGINE; ISOLEUCINE; NUCLEOTIDE; STEROID 21 MONOOXYGENASE; THYMINE;

AMINO ACID SEQUENCE; ARTICLE; CONTROLLED STUDY; DNA HYBRIDIZATION; EVOLUTION; EXON; FAMILY STUDY; FEMALE; GENE CONVERSION; GENE DELETION; GENE INSERTION; GENE MUTATION; GENE REARRANGEMENT; GENETIC DISORDER; GENETIC RECOMBINATION; GENETIC VARIABILITY; HAPLOTYPE; HEALTH SURVEY; HUMAN; HYBRID GENE; INTRON; MAJOR CLINICAL STUDY; MALE; MEIOSIS; NETHERLANDS; POPULATION RESEARCH; PRIORITY JOURNAL; PSEUDOGENE; SALT LOSING NEPHRITIS; SEQUENCE ANALYSIS; SEQUENCE HOMOLOGY; STEROID 21 MONOOXYGENASE DEFICIENCY;

ADRENAL HYPERPLASIA, CONGENITAL; CHROMOSOME MAPPING; COMPLEMENT C4; FAMILY HEALTH; GENES; HAPLOTYPES; HUMANS; MUTATION; NETHERLANDS; PSEUDOGENES; STEROID 21-HYDROXYLASE; VARIATION (GENETICS);

EID: 0033678614     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200543     Document Type: Article

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