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Article

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.

Journal of clinical pathology - 1 Jan 2005

Prasad M L, Velickovic M, Weston S A, Benson E M

Abstract excerpt

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 have been described previously, whereas three new nonsense...

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Identifiers

PMID: 15623492
DOI: 10.1136/jcp.2004.019711
PMCID: PMC1770534

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