title: A novel splice-site mutation in the CD40L gene in a patient with X-linked hyper-IgM syndrome.
authors.affiliation: Institut für Humangenetik, Medizinische Universität, Lübeck, Germany.
authors.forename: D
authors.initials: D
authors.lastname: Dezsö
authors.forename: U
authors.initials: U
authors.lastname: Orth
authors.forename: H
authors.initials: H
authors.lastname: Heilbronner
authors.forename: A
authors.initials: A
authors.lastname: Gal
mesh_terms: D019013:CD40 Antigens; D023201:CD40 Ligand; D008040:Genetic Linkage; D006801:Humans; D006942:Hypergammaglobulinemia / Q000235:genetics*; D007075:Immunoglobulin M / Q000097:blood*; D007438:Introns / Q000235:genetics; D008024:Ligands; D008562:Membrane Glycoproteins / Q000235:genetics*; D017354:Point Mutation; D012326:RNA Splicing / Q000235:genetics*; D014960:X Chromosome
chemical_list: D019013:CD40 Antigens; D007075:Immunoglobulin M; D008024:Ligands; D008562:Membrane Glycoproteins; D023201:CD40 Ligand