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. 2009 Oct 27;115(2):379–387. doi: 10.1182/blood-2009-05-221549

Table 6.

Mutation screening of CFH, CD46, CFI, CFB, C3, and measurement of CFHR1, CFHR3, and CFHR4 copy number

Patient ID CFH CD46 CFI CFB C3 Copy number
CFHR1 CFHR3 CFHR4
1 nmd nmd nmd nmd nmd 0 0 2
2 nmd nmd nmd nmd c.-3_-2dup 0 0 2
3 nmd nmd nmd nmd nmd 0 1 1
4 nmd nmd Exon 11, c.1216C>T;p.Arg406Cys nmd nmd 0 1 1
5 nmd nmd nmd nmd c.1898A>G;p.Lys633Arg 0 0 2
6 nmd nmd nmd nmd nmd 2 2 2
7 nmd nmd nmd nmd nmd 2 2 2
8 nmd nmd nmd nmd nmd 0 0 2
9 nmd c.718T>C;p. Ser240Pro nmd nmd nmd 2 2 2
10 nmd nmd nmd nmd nmd 0 1 1
11 nmd nmd nmd nmd nmd 0 0 2
12 c.2850G>T; p.Gln950His nmd nmd nmd nmd 0 0 2
13 nmd nmd nmd nmd nmd 0 0 2

CFHR indicates complement factor H–related; and nmd, no mutation detected.