Mild pulmonary disease in a cystic fibrosis child homozygous for R553X.
Cheadle
J
J
Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff.
al-Jader
L
L
Goodchild
M
M
Meredith
A L
AL
D003550:Cystic Fibrosis / Q000150:complications* / Q000235:genetics; D005260:Female; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D008171:Lung Diseases / Q000150:complications / Q000503:physiopathology*; D008297:Male; D009154:Mutation; D012326:RNA Splicing