title: A point mutation in exon 2 of the CD40 ligand gene causes the simultaneous expression of two defective mRNA species in X-linked hyperimmunoglobulinemia M.
authors.affiliation: Division of Immunology, Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
authors.forename: N
authors.initials: N
authors.lastname: Ramesh
authors.forename: R
authors.initials: R
authors.lastname: Fuleihan
authors.forename: P
authors.initials: P
authors.lastname: Swinton
authors.forename: F S
authors.initials: FS
authors.lastname: Rosen
authors.forename: R
authors.initials: R
authors.lastname: Geha
mesh_terms: D015703:Antigens, CD; D000944:Antigens, Differentiation, B-Lymphocyte; D001483:Base Sequence; D019013:CD40 Antigens; D023201:CD40 Ligand; D017931:DNA Primers; D005091:Exons; D008040:Genetic Linkage; D006801:Humans; D006942:Hypergammaglobulinemia / Q000235:genetics*; D007075:Immunoglobulin M / Q000097:blood*; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics* / Q000378:metabolism; D008969:Molecular Sequence Data; D017354:Point Mutation; D012333:RNA, Messenger / Q000235:genetics*; D014960:X Chromosome
chemical_list: D015703:Antigens, CD; D000944:Antigens, Differentiation, B-Lymphocyte; D019013:CD40 Antigens; D017931:DNA Primers; D007075:Immunoglobulin M; D008562:Membrane Glycoproteins; D012333:RNA, Messenger; D023201:CD40 Ligand