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A boy with X-linked hyper-IgM syndrome and natural killer cell deficiency

✍ Scribed by B. ØSTENSTAD; S. GILIANI; O. J. MELLBYE; B. R. NILSEN; T. ABRAHAMSEN


Book ID
108698680
Publisher
John Wiley and Sons
Year
1997
Tongue
English
Weight
374 KB
Volume
107
Category
Article
ISSN
0009-9104

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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