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Missense mutation V20A in the tumor necrosis factor receptor superfamily 1A (TNFRSF1A) gene is associated with tumor necrosis factor receptor-associated periodic syndrome (TRAPS) presenting with periodic gastrointestinal symptoms

✍ Scribed by Qingping Yao; Lisa Yerian; Bo Shen


Publisher
John Wiley and Sons
Year
2011
Tongue
English
Weight
117 KB
Volume
17
Category
Article
ISSN
1078-0998

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## Abstract ## Objective To investigate the effect of mutations in tumor necrosis factor receptor superfamily 1A (TNFRSF1A) on the ability of the receptors to be cleaved from the cell surface upon stimulation. The mutations we studied are associated with clinically distinct forms of TNF receptor–a