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Cystic fibrosis: frequency of delta f508 and g542x mutations in Cordoba, Argentina.

Medicina - 1 Jan 1996

Saleh M C, Botelli A, Melano de Botelli M, Rezzonico C A, Argaraña C E

Abstract excerpt

Using Polymerase Chain Reaction (PCR) based techniques we analyzed the frequency and genotypic distribution of two mutations (delta F508 and G542X) that produce Cystic Fibrosis. The study was carried out in 19 non-related patients (38 chromosomes) born in the Province of Córdoba. The distribution of genotypes showed the presence of 8 homozygote patients delta F508/delta F508, 2 individuals with non-determined...

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PMID: 8734924

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