Frequency of CYP21 gene mutations in Czech patients with steroid 21-hydroxylase deficiency and statistical comparison with other populations

Medical Principles and Practice

Volumn 12, Issue 4, 2003, Pages 243-247

  Kotaška, Karel ^a   Průša, Richard ^a  

^a UNIVERSITY HOSPITAL MOTOL   (Czech Republic)

Author keywords

21 Hydroxylase deficiency; CYP21 gene; Frequency of mutations; Genotype; Geographic distribution; Phenotype

Indexed keywords

BIOTIN; CYTOCHROME P450; OLIGONUCLEOTIDE; STEROID 21 MONOOXYGENASE; UNCLASSIFIED DRUG;

ARTICLE; ASIA; BASE PAIRING; CHEMICAL LABELING; COMPARATIVE STUDY; CONFIDENCE INTERVAL; CONGENITAL ADRENAL HYPERPLASIA; CONTROLLED STUDY; CZECH REPUBLIC; DISEASE ASSOCIATION; DOT HYBRIDIZATION; EUROPE; EXON; FISHER EXACT TEST; GENE AMPLIFICATION; GENE CLUSTER; GENE CONVERSION; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; GENETIC DISORDER; GENETIC SCREENING; HUMAN; HYBRIDIZATION; INTRON; MAJOR CLINICAL STUDY; MOLECULAR BIOLOGY; MUTATION RATE; MUTATIONAL ANALYSIS; NORTH AFRICA; NORTH AMERICA; PATIENT; POINT MUTATION; POPULATION; PREVALENCE; RESTRICTION SITE; RNA SPLICING; SOUTH AMERICA; STATISTICAL ANALYSIS; STEROID 21 MONOOXYGENASE DEFICIENCY;

CZECH REPUBLIC; FEMALE; GENE CONVERSION; GENE DELETION; GENOTYPE; HUMANS; MALE; MUTATION; POLYMERASE CHAIN REACTION; STEROID 21-HYDROXYLASE;

EID: 18744420304     PISSN: 10117571     EISSN: None     Source Type: Journal    
DOI: 10.1159/000072291     Document Type: Article

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