A clinical perspective of cystic fibrosis and new genetic findings: Relationship of CFTR mutations to genotype–phenotype manifestations

@article{Kulczycki2003ACP,
  title={A clinical perspective of cystic fibrosis and new genetic findings: Relationship of CFTR mutations to genotype–phenotype manifestations},
  author={Lucas L. Kulczycki and M. Kostuch and Joseph A. Bellanti},
  journal={American Journal of Medical Genetics Part A},
  year={2003},
  volume={116A}
}
The present report describes several aspects of the relationship of mutations in the cystic fibrosis (CF) transmembrane conductance regulator (CFTR) gene to phenotype expression of the disease including several clinical vignettes from the authors' experience. The genotype‐phenotype relationships in CF are complex, and are affected by many factors, including pollution, smoking, bacterial infection, malnutrition, and certain therapeutic agents. The number of CFTR mutations is growing continuously… Expand
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