Article
Complement factor H gene mutation associated with autosomal recessive atypical hemolytic uremic syndrome.
American journal of human genetics - 1 Dec 1999
Ying L, Katz Y, Schlesinger M, Carmi R, Shalev H, Haider N, Beck G, Sheffield V C, Landau D
Abstract excerpt
Atypical hemolytic uremic syndrome (HUS) presents with the clinical features of hypertension, microangiopathic hemolytic anemia, and acute renal failure. Both dominant and recessive modes of inheritance have been reported. This study describes the genetic and functional analysis of a large Bedouin kindred with autosomal recessive HUS. The kindred consists of several related nuclear families in which all parent...
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