title: Novel missense mutation (G314R) in a cystic fibrosis patient with hepatic failure.
authors.affiliation: Department of Pediatrics, University of Michigan, Ann Arbor 48109, USA.
authors.forename: S Z
authors.initials: SZ
authors.lastname: Nasr
authors.forename: T V
authors.initials: TV
authors.lastname: Strong
authors.forename: M K
authors.initials: MK
authors.lastname: Mansoura
authors.forename: D C
authors.initials: DC
authors.lastname: Dawson
authors.forename: F S
authors.initials: FS
authors.lastname: Collins
mesh_terms: D000293:Adolescent; D000818:Animals; D001483:Base Sequence; D002712:Chlorides / Q000378:metabolism; D003550:Cystic Fibrosis / Q000150:complications / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics* / Q000378:metabolism; D017931:DNA Primers; D004594:Electrophysiology; D005260:Female; D015870:Gene Expression; D006801:Humans; D017093:Liver Failure / Q000150:complications*; D008969:Molecular Sequence Data; D009154:Mutation; D009865:Oocytes; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D014981:Xenopus
chemical_list: C505032:CFTR protein, human; D002712:Chlorides; D017931:DNA Primers; D019005:Cystic Fibrosis Transmembrane Conductance Regulator