The delta F508 mutation in mild adult forms of cystic fibrosis (CF).
Twenty CF chromosomes from ten patients with mild adult form of cystic fibrosis were tested for delta F508. This mutation was found to be significantly less frequent than in the severe form of the disease.
Simon-Bouy
B
B
INSERM U73, Paris, France.
Mornet
E
E
Taillandier
A
A
Serre
J L
JL
Boue
J
J
Boue
A
A
D000328:Adult; D003550:Cystic Fibrosis / Q000175:diagnosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D005260:Female; D005817:Genetic Counseling; D005838:Genotype; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D011247:Pregnancy; D011296:Prenatal Diagnosis
C505032:CFTR protein, human; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator