title: Rapid detection of CFTR gene rearrangements impacts on genetic counselling in cystic fibrosis.
authors.affiliation: Service de Biochimie et Génétique, AP-HP et INSERM U468, Hôpital Henri-Mondor, 94010 Créteil, France.
authors.forename: F
authors.initials: F
authors.lastname: Niel
authors.forename: J
authors.initials: J
authors.lastname: Martin
authors.forename: F
authors.initials: F
authors.lastname: Dastot-Le Moal
authors.forename: B
authors.initials: B
authors.lastname: Costes
authors.forename: B
authors.initials: B
authors.lastname: Boissier
authors.forename: V
authors.initials: V
authors.lastname: Delattre
authors.forename: M
authors.initials: M
authors.lastname: Goossens
authors.forename: E
authors.initials: E
authors.lastname: Girodon
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D002648:Child; D003550:Cystic Fibrosis / Q000175:diagnosis*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods*; D005260:Female; D017353:Gene Deletion; D020440:Gene Duplication; D005817:Genetic Counseling; D006801:Humans; D007223:Infant; D008297:Male; D016133:Polymerase Chain Reaction; D013997:Time Factors
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator