Severe cystic fibrosis in a child homozygous for the G542 nonsense mutation in the CFTR gene.
Bienvenu
T
T
Beldjord
C
C
Fonknechten
N
N
Kaplan
J C
JC
Lenoir
G
G
D002446:Celiac Disease / Q000209:etiology; D003550:Cystic Fibrosis / Q000150:complications / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D010188:Exocrine Pancreatic Insufficiency / Q000150:complications / Q000209:etiology*; D006801:Humans; D007231:Infant, Newborn; D007415:Intestinal Obstruction / Q000209:etiology; D008168:Lung / Q000382:microbiology / Q000502:physiology; D008297:Male; D008470:Meconium; D008565:Membrane Proteins / Q000235:genetics*; D010641:Phenotype; D017354:Point Mutation
C505032:CFTR protein, human; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator