C to T mutation causing premature termination of CD40 ligand at amino acid 221 in a patient affected by hyper IgM syndrome.
Villa
A
A
Istituto di Tecnologie Biomediche Avanzate, CNR, Milano, Italy.
Strina
D
D
Macchi
P
P
Patrosso
M C
MC
Vezzoni
P
P
Tovo
P A
PA
Giliani
S
S
Ugazio
A G
AG
Notarangelo
L D
LD
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
D017931:DNA Primers; D007075:Immunoglobulin M; D008562:Membrane Glycoproteins; D023201:CD40 Ligand; D004247:DNA