Severe pulmonary and digestive disease in a cystic fibrosis child homozygous for G542X.
Desgeorges
M
M
Laussel
M
M
Rollin
B
B
Demaille
J
J
Claustres
M
M
D003550:Cystic Fibrosis / Q000150:complications / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D005767:Gastrointestinal Diseases / Q000150:complications*; D006720:Homozygote; D006801:Humans; D007223:Infant; D008173:Lung Diseases, Obstructive / Q000150:complications*; D008565:Membrane Proteins / Q000235:genetics; D009154:Mutation
C505032:CFTR protein, human; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator