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Article

[Clinical and molecular genetic study of cystic fibrosis in the 5th Region of Chile].

Revista medica de Chile - 1 Aug 2002

Molina Graciela, González Francisco J, Cave Ruth, Cornejo de Mónica, Navarro Sara, Deglin Marcel, Milinarsky Aída, Carvallo de Pilar

Abstract excerpt

BACKGROUND: Cystic fibrosis (CF) is the most common autosomal recessive disease in Caucasian population. More than 900 mutations have been detected in the Cystic Fibrosis Transmembrane Regulator (CFTR) gene. The most common worldwide, is a deletion of phenylalanine 508 (delta F508). AIM: To analyze the presence of mutations delta F508, G542X, N1303K, G551D, R553X and S549N in patients from the 5th Region of...

Topics

Adolescent
Adult
Child
Child, Preschool
Chile
Cystic Fibrosis
Cystic Fibrosis Transmembrane Conductance Regulator
Genetics, Population
Genotype
Humans
Infant

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Infant, Newborn

Mutation

Polymorphism, Genetic

Sweat

Source

Identifiers

PMID: 12360792

Genes

CFTR

Provenance

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