Substitutions in the CYP21A2 promoter explain the simple-virilizing form of 21-hydroxylase deficiency in patients harbouring a P30L mutation

Clinical Endocrinology

Volumn 62, Issue 2, 2005, Pages 132-136

  Araujo, Rogério S ^a   Billerbeck, Ana Elisa C ^a   Madureira, Guiomar ^a   Mendonca, Berenice B ^a   Bachega, Tânia A S S ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; CORTISONE ACETATE; CYTOSINE; GUANINE; STEROID 21 MONOOXYGENASE; THYMINE;

ADOLESCENT; ARTICLE; CASE REPORT; CHILD; CONTROLLED STUDY; CYP21A2 GENE; DNA SEQUENCE; ENZYME ACTIVITY; FEMALE; GENE; GENE CONVERSION; GENE MUTATION; GENETIC TRANSCRIPTION; GENOTYPE; HETEROZYGOSITY; HUMAN; IN VITRO STUDY; MALE; NUCLEIC ACID BASE SUBSTITUTION; PHENOTYPE; PRIORITY JOURNAL; PROMOTER REGION; PSEUDOGENE; STEROID 21 MONOOXYGENASE DEFICIENCY; VIRILIZATION;

ADOLESCENT; ADRENAL HYPERPLASIA, CONGENITAL; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; GENOTYPE; HUMANS; MUTATION; PHENOTYPE; PROMOTER REGIONS (GENETICS); STEROID 21-HYDROXYLASE;

EID: 13444283920     PISSN: 03000664     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1365-2265.2005.02184.x     Document Type: Article

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