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Article

[Molecular diagnosis of salt wasting congenital adrenal hyperplasia, caused by deficit of 21-hydroxylase, in the Chilean population].

Revista medica de Chile - 1 Sept 1997

Pineda P, Fardella C, Poggi H, Torrealba I, Cattani A, Soto J, Foradori A

Abstract excerpt

BACKGROUND: The most frequent cause of congenital adrenal hyperplasia, manifested as virilization and salt wasting, is the deficit of 21-hydroxylase. This disease is originated by mutations of the gene CYP21 that codifies this enzyme, mostly recombination between this gene and its inactive pseudogene called CYP21P. AIM: To study the molecular origin of this enzyme deficiency in Chilean patients. PATIENTS AND...

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PMID: 9595788

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