The 78C --> T (T254M) XHIM mutation: lack of a tight phenotype-genotype relationship.
de Vries
E
E
Noordzij
J G
JG
Davies
E G
EG
Hartwig
N
N
Breuning
M H
MH
van Dongen
J J
JJ
van Tol
M J
MJ
D000328:Adult; D023201:CD40 Ligand; D002648:Child; D002675:Child, Preschool; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D006942:Hypergammaglobulinemia / Q000235:genetics*; D007075:Immunoglobulin M / Q000276:immunology*; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation; D014960:X Chromosome
D007075:Immunoglobulin M; D008562:Membrane Glycoproteins; D023201:CD40 Ligand