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

Annie DupuisKatherine KeenanChee Yee Ooi Ruslan Dorfman Marci K SontagLutz NaehrlichCarlo CastellaniLisa J StrugJohanna M Rommens Tanja Gonska

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2015)

MIP scores can be used to rank CFTR mutations according to their clinical severity and provide a means to expand delineation of CF phenotypes.Genet Med 18 4, 333-340.

Keyphrases

cystic fibrosis
pseudomonas aeruginosa
lung function
risk factors
copy number
transcription factor
genome wide
gene expression
dna methylation
genome wide analysis