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. 2019 Mar 19;104(12):2501–2511. doi: 10.3324/haematol.2019.216903

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Figure 3. — Distribution of rare complement variants observed in the whole cohort. Rare complement genetic variants found in patients with atypical hemolytic uremic syndrome are presented above and below the schematic gene representation for those with or without hypertensive emergency, respectively. The nucleotide and amino acid numbering refer to the translation start site (A in ATG is +1), as recommended by the Human Genome Variation Society. Bold characters indicate mutations identified in two or more unrelated patients, suggesting that they may represent mutational hot spots. CFH: complement factor H; MCP: membrane cofactor protein; CFI: complement factor I; CFB: complement factor B; C3: complement component 3: THBD: thrombomodulin.