Salt-wasting congenital adrenal hyperplasia: Detection of mutations in CYP21B gene in a Chilean population

Journal of Clinical Endocrinology and Metabolism

Volumn 83, Issue 9, 1998, Pages 3357-3360

  Fardella, Carlos E ^a   Poggi, Helena ^a   Pineda, Pedro ^b   Soto, Julia ^a   Torrealba, Isabel ^c   Cattani, Andreína ^a   Oestreicher, Eveline ^a   Foradori, Arnaldo ^a  

^a PONTIFICIA UNIVERSIDAD CATÓLICA DE CHILE   (Chile)

^b HOSPITAL CLÍNICO UNIVERSIDAD DE CHILE   (Chile)

^c HOSPITAL LUIS CALVO MACKENNA   (Chile)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME P450; STEROID 21 MONOOXYGENASE;

ADRENAL HYPERPLASIA; ALLELE; CHILE; CONGENITAL ADRENAL HYPERPLASIA; ENZYME DEFICIENCY; FEMALE; GENE MUTATION; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; REVIEW;

ADRENAL HYPERPLASIA, CONGENITAL; ALLELES; CHILE; FEMALE; GENE DELETION; GENOTYPE; HOMOZYGOTE; HUMANS; MALE; MUTATION; POLYMERASE CHAIN REACTION; RNA SPLICING; STEROID 21-HYDROXYLASE;

EID: 0031772706     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.83.9.3357     Document Type: Review

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