title: Two novel mutations in the transmembrane domains of the CFTR gene in subjects of Sardinian descent.
authors.affiliation: Istituto di Clinica e Biologia dell'Età Evolutiva, Università degli Studi di Cagliari, Italy.
authors.forename: L
authors.initials: L
authors.lastname: Saba
authors.forename: G B
authors.initials: GB
authors.lastname: Leoni
authors.forename: A
authors.initials: A
authors.lastname: Meloni
authors.forename: V
authors.initials: V
authors.lastname: Faà
authors.forename: A
authors.initials: A
authors.lastname: Cao
authors.forename: M C
authors.initials: MC
authors.lastname: Rosatelli
mesh_terms: D001483:Base Sequence; D018118:Chloride Channels / Q000235:genetics*; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004252:DNA Mutational Analysis; D005091:Exons; D005796:Genes; D006801:Humans; D007558:Italy; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D017354:Point Mutation
chemical_list: C505032:CFTR protein, human; D018118:Chloride Channels; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator