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Mutations in membrane cofactor protein ( CD46 ) gene in Indian children with hemolytic uremic syndrome

Clinical Kidney Journal Aug 15, 2017

Khandelwal P, et al. – This study illustrates mutations in membrane cofactor protein ( CD46 ) gene in Indian children with the hemolytic uremic syndrome. Including the first year of life, patients with mutations in CD46 present at all ages. For Indian children, mutations in intron 2, (c.286+2T>G) may be a potential hot spot. Based on the results, flow cytometry for CD46 expression has been highlighted as a satisfactory screening tool enabling early diagnosis.
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