Applying CFTR molecular genetics to facilitate the diagnosis of cystic fibrosis through screening.
Bobadilla
Joseph L
JL
Department of Pediatrics, University of Wisconsin, USA.
Farrell
Michael H
MH
Farrell
Philip M
PM
D000483:Alleles; D003142:Communication; D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000145:classification / Q000235:genetics*; D005817:Genetic Counseling; D005820:Genetic Testing / Q000379:methods*; D005828:Genetics, Population; D014943:Global Health; D006801:Humans; D009154:Mutation
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator