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.
Ramesh
N
N
Division of Immunology, Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
Fuleihan
R
R
Swinton
P
P
Rosen
F S
FS
Geha
R
R
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
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