[Molecular genetic study of cystic fibrosis in the Chilean population. Relationship to its clinical expression].

Article

[Molecular genetic study of cystic fibrosis in the Chilean population. Relationship to its clinical expression].

Revista medica de Chile - 1 Nov 1993

Aspillaga M, Avendaño I, Largo I, Valenzuela C, Riveros N, Orellana O, Moreno M A

Abstract excerpt

Aiming to establish a genotype-phenotype relationship and to search a clinical expression in heterozygotes, 25 Chilean subjects with Cystic Fibrosis and 165 relatives were subjected to a clinical-molecular study. The most common mutations found worldwide were studied: delta F-508, G-542X, N-1303K...

Topics

Adolescent
Adult
Child
Child, Preschool
Chile
Cystic Fibrosis
Female
Genotype
Haplotypes
Humans
Infant
Male
Molecular Biology
Phenotype
White People

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