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nejm annual bmj diagnosis ebm education foam ivacaftor management modulatortherapy mutations nice pathophys pediatrics pharm phe508del podcast primarycare pulm screening
Classes of Mutations in the Gene Encoding Cystic Fibrosis Transmembrane Conductance Regulator (CFTR). Depending on the
molecular defect, CFTR ... no functional CFTR ... premature stop codons ... Pathophys #Pulm #Peds ... #CysticFibrosis
Cystic Fibrosis An autosomal recessive condition. Mutations affect a specific gene on chromosome 7. The affected
conductance regulator (CFTR ... #CysticFibrosis
The Cribsiders episode: "Cystic Fibrosis Licked-ty Split with Dr. Whittney Warren" #cysticfibrosis #cftr #pediatrics #podcast #education
Whittney Warren" #cysticfibrosis ... #cftr #pediatrics
Tezacaftor–Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del #EBM #CysticFibrosis #Tezacaftor #Ivacaftor #CFTR #Phe508del #NEJM
Phe508del #EBM #CysticFibrosis ... Tezacaftor #Ivacaftor #CFTR
Monitoring people with cystic fibrosis #Screening #Management #Peds #PrimaryCare #CysticFibrosis #Screening #Annual #NICE #BMJ
Screening #Management #Peds ... #PrimaryCare #CysticFibrosis
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