Identification of a novel nonsense mutation (L88X) in exon 3 of the cystic fibrosis transmembrane conductance regulator gene in a native Korean cystic fibrosis chromosome.
Macek
M
M
Center for Medical Genetics, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287-3914.
Hamosh
A
A
Kiesewetter
S
S
McIntosh
I
I
Rosenstein
B J
BJ
Cutting
G R
GR
D001483:Base Sequence; D002675:Child, Preschool; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D005091:Exons; D006801:Humans; D007723:Korea / Q000208:ethnology; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data
C505032:CFTR protein, human; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA