A CFTR mutation (D1152H) in a family with mild lung disease and normal sweat chlorides.
Highsmith
W E
WE
Friedman
K J
KJ
Burch
L H
LH
Spock
A
A
Silverman
L M
LM
Boucher
R C
RC
Knowles
M R
MR
D000368:Aged; D002712:Chlorides; D003550:Cystic Fibrosis / Q000209:etiology / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005190:Family; D005260:Female; D006801:Humans; D008171:Lung Diseases / Q000209:etiology / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009154:Mutation; D012016:Reference Values; D013542:Sweat
C505032:CFTR protein, human; D002712:Chlorides; D019005:Cystic Fibrosis Transmembrane Conductance Regulator