title: C to T mutation causing premature termination of CD40 ligand at amino acid 221 in a patient affected by hyper IgM syndrome.
authors.affiliation: Istituto di Tecnologie Biomediche Avanzate, CNR, Milano, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Villa
authors.forename: D
authors.initials: D
authors.lastname: Strina
authors.forename: P
authors.initials: P
authors.lastname: Macchi
authors.forename: M C
authors.initials: MC
authors.lastname: Patrosso
authors.forename: P
authors.initials: P
authors.lastname: Vezzoni
authors.forename: P A
authors.initials: PA
authors.lastname: Tovo
authors.forename: S
authors.initials: S
authors.lastname: Giliani
authors.forename: A G
authors.initials: AG
authors.lastname: Ugazio
authors.forename: L D
authors.initials: LD
authors.lastname: Notarangelo
mesh_terms: D001483:Base Sequence; D023201:CD40 Ligand; D002648:Child; D004247:DNA / Q000097:blood; D004252:DNA Mutational Analysis; D017931:DNA Primers; D005260:Female; D006801:Humans; D006942:Hypergammaglobulinemia / Q000235:genetics*; D007075:Immunoglobulin M / Q000235:genetics*; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D008969:Molecular Sequence Data; D017354:Point Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction
chemical_list: D017931:DNA Primers; D007075:Immunoglobulin M; D008562:Membrane Glycoproteins; D023201:CD40 Ligand; D004247:DNA