Phenotype and genotype correlation of the microconversion from the CYP21A1P to the CYP21A2 gene in congenital adrenal hyperplasia

Brazilian Journal of Medical and Biological Research

Volumn 36, Issue 10, 2003, Pages 1311-1318

  Torres, N ^a   Mello, M P ^a   Germano, C M R ^b   Elias, L L K ^b   Moreira, A C ^b   Castro, M ^b  

^a UNIVERSITY OF CAMPINAS   (Brazil)

^b UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

21 hydroxylase; Congenital adrenal hyperplasia; Genotype; Microconversion; Mutation; Phenotype

Indexed keywords

ADENINE; ANDROSTENEDIONE; CYTOCHROME P450 2A1; CYTOCHROME P450 2A2; CYTOSINE; GUANINE; HYDROXYPROGESTERONE; OXIDOREDUCTASE; STEROID 21 MONOOXYGENASE; TESTOSTERONE; UNCLASSIFIED DRUG;

ADRENAL CELL; ARTICLE; BRAZIL; CHILD; CLINICAL ARTICLE; COHORT ANALYSIS; CONGENITAL ADRENAL HYPERPLASIA; CONTROLLED STUDY; CORRELATION ANALYSIS; DIAGNOSTIC PROCEDURE; DISEASE SEVERITY; ENZYME ACTIVITY; ETHNOLOGY; FEMALE; FEMALE GENITAL SYSTEM; GENE CONVERSION; GENE FREQUENCY; GENE MUTATION; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HUMAN CELL; HUMAN TISSUE; IN VITRO STUDY; INFANT; MALE; MOLECULAR PHYLOGENY; NEWBORN; POINT MUTATION; POLYMERASE CHAIN REACTION; POPULATION RESEARCH; SALT LOSING NEPHRITIS; STEROID 21 MONOOXYGENASE DEFICIENCY; VIRILIZATION;

EID: 0142210403     PISSN: 0100879X     EISSN: 1414431X     Source Type: Journal    
DOI: 10.1590/S0100-879X2003001000006     Document Type: Article

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