补充因子I罕见变体p.Ile357Met的热点在患有血液溶解尿素综合征的患者中

Nora Schwotzer1, Fadi Fakhouri1, Paula Vieira Martins2

  • 1Service of Nephrology and Hypertension, Department of Medicine, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.

概括

补充因子I (CFI) 基因中的一种罕见变异,p.Ile357Met,与非典型的溶血性尿素性综合征 (aHUS) 有关. 这种遗传因素有助于HUS的初级和二级形式,影响脏健康.

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