Mutation analysis in CD40 ligand deficie
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Fay Katz; Steve Hinshelwood; Paul Rutland; Alison Jones; Christine Kinnon; Garet
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Article
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1996
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John Wiley and Sons
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English
⚖ 680 KB
Mutations in the gene encoding CD40 ligand have been shown to be the cause of X-linked hypogammaglobulinemia with hyper IgM (HIGM1). We have used the technique of single strand conformational polymorphism (SSCP) analysis to screen for mutations in this gene in affected boys from nineteen unrelated f