Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
Wagner, K; Zach, M; Rosenkranz, W.
Frequency of delta F508 and haplotype association in Austrian cystic fibrosis families.
HUM GENET. 1992; 89(4): 437-438.
Doi: 10.1007/BF00194318
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- Führende Autor*innen der Med Uni Graz
- Wagner Klaus
- Co-Autor*innen der Med Uni Graz
- Zach Maximilian
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- 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.
- Find related publications in this database (using NLM MeSH Indexing)
- Austria -
- Cystic Fibrosis - genetics
- Cystic Fibrosis Transmembrane Conductance Regulator - genetics
- Exocrine Pancreatic Insufficiency - genetics
- Gene Frequency - genetics
- Genetic Markers - genetics
- Haplotypes - genetics
- Humans - genetics
- Membrane Proteins - genetics
- Mutation - genetics
- Polymerase Chain Reaction - genetics
- Polymorphism, Restriction Fragment Length - genetics