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. 1992 Jun;89(4):437-8.
doi: 10.1007/BF00194318.

Frequency of delta F508 and haplotype association in Austrian cystic fibrosis families

K Wagner  1 , M Zach, W Rosenkranz
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Frequency of delta F508 and haplotype association in Austrian cystic fibrosis families

K Wagner et al. Hum Genet. 1992 Jun.

Abstract

The frequency of the major mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene was analyzed for 113 Austrian cystic fibrosis (CF) patients. An overall frequency of 55% for delta F508 was found with values of 72% and 13% for patients with pancreatic insufficiency (CF-PI) and those with pancreatic sufficiency (CF-PS), respectively. Furthermore, the distribution of the alleles of the closely linked DNA markers XV2c/KM19/MP6d-9 in our families is described.

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