First report of three cystic fibrosis patients homozygous for the 1717-1G-->A mutation.
Padoan
R
R
Giunta
A
A
Marzano
M T
MT
Seia
M
M
Raia
V
V
Ferrari
M
M
Cremonesi
L
L
D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics; D005260:Female; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D017354:Point Mutation / Q000235:genetics*
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator