[Molecular diagnosis of cystic fibrosis in 93 Argentinean patients and detection of heterozygotes in affected families. Impact on health services and therapeutic advances].

Abstract excerpt

INTRODUCTION: The cystic fibrosis is an autosomal recessive disease caused by more than 1500 mutations and variants in the cystic fibrosis transmembrane conductance regulator gene. OBJECTIVES: To establish the spectrum and frequency of mutations on this gene in Argentinean patients.To detect heterozygotes in affected families. PATIENTS AND METHODS: We investigated 91 clinical and biochemically confirmed patients...

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