Article
A novel polymorphism of the human CD40 receptor with enhanced function.
Blood - 1 Sept 2008
Peters Anna L, Plenge Robert M, Graham Robert R, Altshuler David M, Moser Kathy L, Gaffney Patrick M, Bishop Gail A
Abstract excerpt
CD40 signaling is critical for innate and adaptive immunity against pathogens, and the cytoplasmic domain of CD40 is highly conserved both within and between species. A novel missense single nucleotide polymorphism (SNP) in the cytoplasmic domain of CD40 at position 227 (P227A) was identified, which resides on a conserved ancestral haplotype highly enriched in persons of Mexican and South American descent....
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