A novel splice-site mutation in the CD40L gene in a patient with X-linked hyper-IgM syndrome.
Dezsö
D
D
Institut für Humangenetik, Medizinische Universität, Lübeck, Germany.
Orth
U
U
Heilbronner
H
H
Gal
A
A
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
D019013:CD40 Antigens; D007075:Immunoglobulin M; D008024:Ligands; D008562:Membrane Glycoproteins; D023201:CD40 Ligand