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

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 pseudo...

Topics

Adrenal Hyperplasia, Congenital
Chile
Genotype
Humans
Molecular Sequence Data
Mutation
Polymerase Chain Reaction

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