Mutational screening of the CD40 ligand (CD40L) gene in patients with X linked hyper-IgM syndrome (XHIM) and determination of carrier status in female relatives.

@article{Prasad2005MutationalSO,
  title={Mutational screening of the CD40 ligand (CD40L) gene in patients with X linked hyper-IgM syndrome (XHIM) and determination of carrier status in female relatives.},
  author={Madhuri L Prasad and Marija Velickovic and Susan A Weston and Elisabeth M Benson},
  journal={Journal of clinical pathology},
  year={2005},
  volume={58 1},
  pages={90-2}
}
AIMS To analyse the gene encoding the CD40 ligand (CD40L) in 11 Australian patients from 10 unrelated families with the X linked hyper-IgM (XHIM) phenotype. METHODS The CD40L gene was screened for mutations using direct sequencing of exon specific polymerase chain reaction (PCR) products. RESULTS Ten mutations were identified. Seven of these mutations… CONTINUE READING