Three novel mutations in CYP21 gene in brazilian patients with the classical form of 21-hydroxylase deficiency due to a founder effect

Journal of Clinical Endocrinology and Metabolism

Volumn 87, Issue 9, 2002, Pages 4314-4317

  Billerbeck, Ana Elisa C ^a   Mendonca, Berenice B ^a   Pinto, Emilia M ^a   Madureira, Guiomar ^a   Arnhold, Ivo J P ^a   Bachega, Tânia A S S ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; STEROID 21 MONOOXYGENASE;

ARTICLE; BRAZIL; CHILD; CLINICAL ARTICLE; CONGENITAL ADRENAL HYPERPLASIA; ENZYME DEFICIENCY; FEMALE; GENE MUTATION; GENOTYPE; HAPLOTYPE; HUMAN; MALE; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; STEROID 21 MONOOXYGENASE DEFICIENCY;

ADRENAL HYPERPLASIA, CONGENITAL; BRAZIL; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; FOUNDER EFFECT; GENOTYPE; HETEROZYGOTE; HUMANS; INTRONS; MALE; MICROSATELLITE REPEATS; MUTATION; POLYMERASE CHAIN REACTION; STEROID 21-HYDROXYLASE;

RAPHIA FRATER;

EID: 0036738455     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.2001-011939     Document Type: Article

References (36)

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