Novel missense mutation (G314R) in a cystic fibrosis patient with hepatic failure.
Nasr
S Z
SZ
Department of Pediatrics, University of Michigan, Ann Arbor 48109, USA.
Strong
T V
TV
Mansoura
M K
MK
Dawson
D C
DC
Collins
F S
FS
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
C505032:CFTR protein, human; D002712:Chlorides; D017931:DNA Primers; D019005:Cystic Fibrosis Transmembrane Conductance Regulator