title: Negative genetic neonatal screening for cystic fibrosis caused by compound heterozygosity for two large CFTR rearrangements.
authors.forename: A
authors.initials: A
authors.lastname: Girardet
authors.forename: C
authors.initials: C
authors.lastname: Guittard
authors.forename: J-P
authors.initials: JP
authors.lastname: Altieri
authors.forename: C
authors.initials: C
authors.lastname: Templin
authors.forename: N
authors.initials: N
authors.lastname: Stremler
authors.forename: C
authors.initials: C
authors.lastname: Beroud
authors.forename: M
authors.initials: M
authors.lastname: des Georges
authors.forename: M
authors.initials: M
authors.lastname: Claustres
mesh_terms: D001483:Base Sequence; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D017353:Gene Deletion; D006579:Heterozygote; D006801:Humans; D007077:Ileal Diseases / Q000150:complications / Q000235:genetics*; D007231:Infant, Newborn; D007410:Intestinal Diseases / Q000235:genetics / Q000473:pathology; D008470:Meconium / Q000378:metabolism; D008957:Models, Genetic; D008969:Molecular Sequence Data; D009154:Mutation; D015997:Neonatal Screening; D014362:Trypsinogen / Q000737:chemistry / Q000378:metabolism
chemical_list: D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D014362:Trypsinogen