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Figure 1 | Orphanet Journal of Rare Diseases

Figure 1

From: Complement factor I deficiency: a not so rare immune defect. Characterization of new mutations and the first large gene deletion

Figure 1

Pedigrees and complement studies. A) Pedigrees of the families with CFI deficiency. Black symbols represent complete deficient of CFI and half-filled symbols indicate partial deficiency. B) Western blot analysis of CFI in serum samples. C) Complement profiles: measurement of C3, C4, CFB, CFH, CFI, C3NeF and CFHA plasma levels. Abbreviations used: NEG, negative. ND, not determined. CFB, Complement Factor B. CFH, Complement Factor H. CFI, Complement Factor I. C3NeF, C3 Nephritic Factor. CFHA, Complement Factor H auto antibodies.

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172