Mild cystic fibrosis in child homozygous for G542 non-sense mutation in CF gene.
Bonduelle
M
M
Lissens
W
W
Liebaers
I
I
Malfroot
A
A
Dab
I
I
D002648:Child; D003062:Codon; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D005260:Female; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics*
C505032:CFTR protein, human; D003062:Codon; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator