Ontology highlight
ABSTRACT:
SUBMITTER: Prasad ML
PROVIDER: S-EPMC1770534 | biostudies-literature | 2005 Jan
REPOSITORIES: biostudies-literature
Prasad M L ML Velickovic M M Weston S A SA Benson E M EM
Journal of clinical pathology 20050101 1
<h4>Aims</h4>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.<h4>Methods</h4>The CD40L gene was screened for mutations using direct sequencing of exon specific polymerase chain reaction (PCR) products.<h4>Results</h4>Ten mutations were identified. Seven of these mutations have been described previously, whereas three new nonsense mutations were identified, namely: E108X (c.322G>T), G167X (c.499 ...[more]