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Mutations of CD40 ligand in two patients with hyper-IgM syndrome

✍ Scribed by Miguel A. García-Pérez; Estela Paz-Artal; Alfredo Corell; Angel Moreno; Alberto López-Goyanes; Francisco García-Martín; Rosario Vázquez; Aranzazu Pacho; Eva Romo; Luis M. Allende


Book ID
117850946
Publisher
Elsevier Science
Year
2003
Tongue
English
Weight
135 KB
Volume
207
Category
Article
ISSN
0171-2985

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Mutation analysis in CD40 ligand deficie
✍ Fay Katz; Steve Hinshelwood; Paul Rutland; Alison Jones; Christine Kinnon; Garet 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 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