Article
Prevalence of meconium ileus marks the severity of mutations of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Apr 2016
Dupuis Annie, Keenan Katherine, Ooi Chee Y, Dorfman Ruslan, Sontag Marci K, Naehrlich Lutz, Castellani Carlo, Strug Lisa J, Rommens Johanna M, Gonska Tanja
Abstract excerpt
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...
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