title: Molecular diagnosis of cystic fibrosis.
abstract: A review of the current molecular diagnosis of cystic fibrosis including an introduction to cystic fibrosis, the gene function, the phenotypic variation, who should be screened for which mutation, newborn and couple screening, quality assurance, phenotype-genotype correlation, methods and method limitations, options, statements, recommendations, useful Websites and treatments.
authors.affiliation: SUNY Upstate Medical University, 750E Adams Street, Syracuse, NY 13210, USA. shrimpta@upstate.edu
authors.forename: Antony E
authors.initials: AE
authors.lastname: Shrimpton
mesh_terms: D001483:Base Sequence; D002874:Chromosome Mapping; D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000737:chemistry / Q000235:genetics / Q000378:metabolism; D005817:Genetic Counseling; D006801:Humans; D007231:Infant, Newborn; D007258:Informed Consent; D008403:Mass Screening; D025202:Molecular Diagnostic Techniques / Q000379:methods*; D009154:Mutation; D015997:Neonatal Screening; D011786:Quality Control; D011933:Reagent Kits, Diagnostic
chemical_list: C505032:CFTR protein, human; D011933:Reagent Kits, Diagnostic; D019005:Cystic Fibrosis Transmembrane Conductance Regulator