title: Novel double mutant CF allele identified in a cystic fibrosis patient with meconium ileus.
authors.affiliation: Laboratoire de Biochimie et Génétique Moléculaire, Hôpital Cochin, Paris, France.
authors.forename: J
authors.initials: J
authors.lastname: Steffann
authors.forename: D
authors.initials: D
authors.lastname: Vidaud
authors.forename: S
authors.initials: S
authors.lastname: Bousquet
authors.forename: M
authors.initials: M
authors.lastname: Jullien
authors.forename: A
authors.initials: A
authors.lastname: Ninot
authors.forename: J C
authors.initials: JC
authors.lastname: Kaplan
authors.forename: C
authors.initials: C
authors.lastname: Beldjord
authors.forename: T
authors.initials: T
authors.lastname: Bienvenu
mesh_terms: D000483:Alleles; D019943:Amino Acid Substitution; D003550:Cystic Fibrosis / Q000150:complications / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007415:Intestinal Obstruction / Q000150:complications*; D008470:Meconium; D020125:Mutation, Missense
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator