Identification of the M1101K mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and complete detection of cystic fibrosis mutations in the Hutterite population.

@article{Zielenski1993IdentificationOT,
  title={Identification of the M1101K mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and complete detection of cystic fibrosis mutations in the Hutterite population.},
  author={Julian Zielenski and Tatsushi Fujiwara and Danuta Markiewicz and Anne Paradis and A I Anacleto and Brenda Richards and Robert H. Schwartz and Katherine Wood Klinger and Lap Chee Tsui and Kenneth Morgan},
  journal={American journal of human genetics},
  year={1993},
  volume={52 3},
  pages={609-15}
}
The Hutterite population is a genetic isolate with an increased incidence of cystic fibrosis (CF). Previously we identified three CF haplotypes defined by polymorphisms flanking the CF transmembrane conductance regulator (CFTR) gene. delta F508 was present on one of the haplotypes in only 35% of CF chromosomes. We hypothesized that the other two CF haplotypes, one of which was the most common and the other of which is rare, each harbored different non-delta F508 mutations. Single-strand… CONTINUE READING

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