Genetics of cystic fibrosis.
The cystic fibrosis gene specifies a membrane transport protein and over 100 disease-causing mutations have now been identified. Although at least some of these determine the incidence of pancreatic disease, there is no association between a particular mutation and the severity of lung and liver disease.
Knight
R A
RA
Department of Cystic Fibrosis, National Heart and Lung Institute, London.
D003550:Cystic Fibrosis / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D006580:Genetic Carrier Screening; D005817:Genetic Counseling; D015894:Genome, Human; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics; D009154:Mutation; D011296:Prenatal Diagnosis; D011379:Prognosis
C505032:CFTR protein, human; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator