Two patients with cystic fibrosis, nonsense mutations in each cystic fibrosis gene, and mild pulmonary disease.
Cutting
G R
GR
Center for Medical Genetics, Johns Hopkins University School of Medicine, Baltimore, MD 21205.
Kasch
L M
LM
Rosenstein
B J
BJ
Tsui
L C
LC
Kazazian
H H
HH
Antonarakis
S E
SE
D000328:Adult; D001483:Base Sequence; D002648:Child; D003550:Cystic Fibrosis / Q000150:complications / Q000235:genetics*; D005091:Exons; D005260:Female; D006801:Humans; D008168:Lung / Q000503:physiopathology; D008171:Lung Diseases / Q000150:complications / Q000235:genetics; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction