Prevalence of meconium ileus marks the severity of mutations of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene

@article{Dupuis2016PrevalenceOM,
  title={Prevalence of meconium ileus marks the severity of mutations of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene},
  author={Annie Dupuis and Katherine Keenan and Chee Yee Ooi and Ruslan Dorfman and Marci K Sontag and Lutz Naehrlich and Carlo Castellani and Lisa J. Strug and Johanna M Rommens and Tanja Gonska},
  journal={Genetics in Medicine},
  year={2016},
  volume={18},
  pages={333-340}
}
Rationale:Meconium ileus (MI) is a perinatal complication in cystic fibrosis (CF), which is only minimally influenced by environmental factors. We derived and examined MI prevalence (MIP) scores to assess CFTR phenotype–phenotype correlation for severe mutations.Method:MIP scores were established using a Canadian CF population (n = 2,492) as estimates of the proportion of patients with MI among all patients carrying the same CFTR mutation, focusing on patients with p.F508del as the second… CONTINUE READING
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