Article
Variant-specific quantification of factor H in plasma identifies null alleles associated with atypical hemolytic uremic syndrome.
Kidney international - 1 Oct 2010
Hakobyan Svetlana, Tortajada Agustín, Harris Claire L, de Córdoba Santiago R, Morgan Bryan P
Abstract excerpt
Atypical hemolytic uremic syndrome (aHUS) is associated with complement alternative pathway defects in over half the cases. Point mutations that affect complement surface regulation are common in factor H (CFH); however, sometimes individuals have null mutations in heterozygosis. The latter are difficult to identify, although a consistently low plasma factor H (fH) concentration is suggestive; definitive proof...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.