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

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:...

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Enregistré dans:
Détails bibliographiques
Auteurs principaux: Prasad, M L, Velickovic, M, Weston, S A, Benson, E M
Format: Artigo
Langue:Inglês
Publié: Copyright 2005 Journal of Clinical Pathology 2005
Sujets:
Case Reports/Short Reports
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC1770534/
https://ncbi.nlm.nih.gov/pubmed/15623492
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jcp.2004.019711
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