Analysis of 30 known cystic fibrosis mutations : 10 mutations account for 27 % of non-ΔF508 chromosomes in Southern France

We have analyzed 131 unrelated families from Southern France for 29 known cystic fibrosis (CF) mutations identified in 8 exons of the cystic fibrosis transmembrane regulator gene. All these mutations were detected by amplification of DNA by the polymerase chain reaction (PCR) followed by restriction...

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Veröffentlicht in:Human genetics 1992-12, Vol.90 (4), p.464-466
Hauptverfasser: CLAUSTRES, M, DESGEORGES, M, KJELLBERG, P, TISSOT, C, DEMAILLE, J
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Sprache:eng
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