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A novel non-synonymous polymorphism (p.Arg240His) in C4b-binding protein is associated with atypical hemolytic uremic syndrome and leads to impaired alternative pathway cofactor activity

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Description scientific article
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author: Martha Diaz-Torres  Bruno O Villoutreix  Charlie Tomson  Matthew M Edey  Véronique Frémeaux-Bacchi  Judith A Goodship  Lisa Strain  Timothy H J Goodship 

Publication date May 1, 2008
Language English
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