Mild pulmonary, but severe hepatic disease in a cystic fibrosis patient homozygous for a frameshift mutation in the regulatory domain of the CFTR.
Lissens
W
W
Desmyttere
S
S
Bonduelle
M
M
Dab
I
I
Liebaers
I
I
Mercier
B
B
Audrezet
M P
MP
Ferec
C
C
D000293:Adolescent; D003550:Cystic Fibrosis / Q000150:complications* / Q000235:genetics; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D016368:Frameshift Mutation; D005809:Genes, Regulator / Q000235:genetics; D006801:Humans; D008107:Liver Diseases / Q000209:etiology* / Q000235:genetics; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D010182:Pancreatic Diseases / Q000209:etiology* / Q000235:genetics
C505032:CFTR protein, human; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator