Molecular diagnosis of salt wasting congenital adrenal hyperplasia, caused by deficit of 21-hydroxylase, in the Chilean population;Diagnóstico molecular de hiperplasia suprarrenal congénita por déficit de 21-hidroxilasa, variedad perdedora de sal, en población chilena

Revista Medica de Chile

Volumn 125, Issue 9, 1997, Pages 987-992

  Pineda B, Pedro ^a   Fardella B, Carlos ^a,c   Poggi M, Helena ^b   Torrealba M, Isabel ^a   Cattani O, Andreína ^a   Soto M, Julia ^b   Foradori C, Arnaldo ^a  

^a HOSPITAL DR SÓTERO DEL RÍO   (Chile)

^b Bioquímico ^*

^c PONTIFICIA UNIVERSIDAD CATÓLICA DE CHILE   (Chile)

Author keywords

21 hydroxylase deficiency; Adrenal hyperplasia, congenital; Genetic counseling; Genetics, medical; Polymerase chain reaction

Indexed keywords

ARTICLE; CHILE; CONGENITAL ADRENAL HYPERPLASIA; ENZYMOLOGY; GENETICS; GENOTYPE; HUMAN; MOLECULAR GENETICS; MUTATION; POLYMERASE CHAIN REACTION;

ADRENAL HYPERPLASIA, CONGENITAL; CHILE; GENOTYPE; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION; POLYMERASE CHAIN REACTION;

EID: 3643049327     PISSN: 00349887     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (23)

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