Article
A novel mutation in the complement regulator clusterin in recurrent hemolytic uremic syndrome.
Molecular immunology - 1 Jul 2009
Ståhl Anne-lie, Kristoffersson AnnCharlotte, Olin Anders I, Olsson Martin L, Roodhooft Anne-Marie, Proesmans Willem, Karpman Diana
Abstract excerpt
A novel heterozygous mutation in the clusterin gene, nucleotide position A1298C (glutamine>proline Q433P), was detected in exon 7 of a child with recurrent hemolytic uremic syndrome (HUS). The same mutation was found in the child's two siblings and mother but not in 120 controls. In addition, a previously described heterozygous mutation was detected in the gene encoding membrane cofactor protein (MCP) causing a 6...
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