Molecular diagnostics for cystic fibrosis.
There have been great advances in the understanding of cystic fibrosis since the CF gene has been cloned and sequenced. We can now use DNA diagnostic techniques to provide information for the physician and families that help with diagnosis of the disease. We can also identify individuals at risk of having a child with CF, either in families in which there is a history of the disease or in the general population. It is hoped that the future will bring more effective treatment in the form of gene therapy or new drugs based on our improved knowledge of the molecular pathology caused by the various mutations.
Friderici
K H
KH
Department of Pediatrics, Michigan State University, East Lansing, USA.
D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics; D004247:DNA / Q000032:analysis; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA