Many deltaF508 heterozygote neonates with transient hypertrypsinaemia have a second, mild CFTR mutation.
Boyne
J
J
Evans
S
S
Pollitt
R J
RJ
Taylor
C J
CJ
Dalton
A
A
D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004252:DNA Mutational Analysis; D020180:Heteroduplex Analysis; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D015997:Neonatal Screening; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D017384:Sequence Deletion; D014357:Trypsin / Q000097:blood* / Q000276:immunology
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D014357:Trypsin