Duplication of the CYP21A2 gene complicates mutation analysis of steroid 21-hydroxylase deficiency: Characteristics of three unusual haplotypes

Human Genetics

Volumn 111, Issue 4-5, 2002, Pages 405-410

  Koppeans, Paul F J ^a,b   Hoogenboezem, Theo ^b   Degenhart, Herman J ^b  

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b SOPHIA CHILDREN S HOSPITAL   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME P450; CYTOCHROME P450 21A2; STEROID 21 MONOOXYGENASE; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CHROMOSOME 6; CLINICAL ARTICLE; CLINICAL PROTOCOL; CONGENITAL ADRENAL HYPERPLASIA; CONTROLLED STUDY; DIAGNOSTIC PROCEDURE; DNA RESTRICTION; FEMALE; GENE; GENE AMPLIFICATION; GENE DUPLICATION; GENE MAPPING; GENE MUTATION; GENE STRUCTURE; HAPLOTYPE; HETEROZYGOTE; HUMAN; MALE; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; POLYMERASE CHAIN REACTION; POPULATION RESEARCH; PRIORITY JOURNAL; SODIUM DEPLETION;

ADRENAL HYPERPLASIA, CONGENITAL; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; ELECTROPHORESIS, AGAR GEL; GENE DUPLICATION; HAPLOTYPES; HETEROZYGOTE DETECTION; HUMANS; RESTRICTION MAPPING; STEROID 21-HYDROXYLASE;

EID: 0036821001     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-002-0810-7     Document Type: Article

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