Homozygosity for L997F in a child with normal clinical and chloride secretory phenotype provides evidence that this cystic fibrosis transmembrane conductance regulator mutation does not cause cystic fibrosis.
Derichs
N
N
Schuster
A
A
Grund
I
I
Ernsting
A
A
Stolpe
C
C
Körtge-Jung
S
S
Gallati
S
S
Stuhrmann
M
M
Kozlowski
P
P
Ballmann
M
M
D002675:Child, Preschool; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005260:Female; D006720:Homozygote; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator