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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 the frequency of haplotypes associated with CF for six linked RFLP markers (MetD/TaqI, MetH/TaqI, XV-2c/TaqI,...

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PMID: 1355957

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