title: Compound heterozygotes for a CF mutation and the 5T splice variant associated with variable presentations in a French family.
authors.forename: T
authors.initials: T
authors.lastname: Bienvenu
authors.forename: J
authors.initials: J
authors.lastname: Lepercq
authors.forename: J P
authors.initials: JP
authors.lastname: Allard
authors.forename: D
authors.initials: D
authors.lastname: Hubert
authors.forename: C
authors.initials: C
authors.lastname: Francoual
authors.forename: C
authors.initials: C
authors.lastname: Beldjord
authors.forename: J C
authors.initials: JC
authors.lastname: Kaplan
mesh_terms: D000483:Alleles; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004252:DNA Mutational Analysis; D004843:Epistasis, Genetic; D017809:Fatal Outcome; D005260:Female; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D012326:RNA Splicing; D017384:Sequence Deletion; D014649:Vas Deferens / Q000002:abnormalities
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator