Cystic fibrosis gene mutations and linked RFLPs in the Slovenian population.

Article

Cystic fibrosis gene mutations and linked RFLPs in the Slovenian population.

Annales de genetique - 1 Jan 1992

Ravnik-Glavac M, Gasparini P, Peterlin B, Strukelj M, Glavac D, Canki-Klain N, Pignatti P F, Komel R

Abstract excerpt

The authors used polymerase chain reaction to analyse 56 Slovenian cystic fibrosis (CF) chromosomes for the presence of delta F508 and eight other most frequent mutations located in exons 7,11 and 20 (R347P, R334W, G551D, R553X, S549RA, S549RT, S549I and S1255X) of the CF gene. We also determined...

Topics

Child
Cystic Fibrosis
DNA
DNA Probes
Genetic Linkage
Genetics, Population
Haplotypes
Humans
Mutation
Polymorphism, Restriction Fragment Length
Yugoslavia

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