Literatur

[1] Kerem B-S et al. (1989): Identification of cystic fibrosis gene: genetic analysis. Science 245, 1073–1080

[2] Rommens J M et al. (1989): Identification of the cystic fibrosis transmembrane conductance regulator (CFTR) gene: chromosome walking and jumping. Science 245, 1059–1065

[3] The cystic fibrosis Genetic Analysis Consortium (1994): Population variation of common cystic fibrosis mutations. Hum. Mutat. 4,167–177

[4] Cystic fibrosis: a clinical view. Castellani C1, Assael BM2

[5] Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. Sosnay PR1

[6] Kinderrichtlinie, veröffentlicht am Donnerstag, 18. August 2016, BAnz AT 18.08.2016 B1

[7] Winter T et al. (2016): 3 Jahre Mukoviszidose-Screening für Neugeborene in Mecklenburg-Vorpommern. Monatsschr Kinderh published online 19.02.2016

[8] Legrys V et al. (2009): Sweat testing: sample collection and quantitative chloride analysis-approved guideline. Clinical and Laboratory Standards Institute Wayne, PA, USA

[9] Nahrlich L et al. (2014): Recommendations for actions according to the guidelines on diagnosis of cystic fibrosis. Monatsschr Kinderh 162:723–724