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Factor H Mutations in Hemolytic Uremic Syndrome Cluster in Exons 18–20, a Domain Important for Host Cell Recognition  Anna Richards, Mark R. Buddles,

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Presentation on theme: "Factor H Mutations in Hemolytic Uremic Syndrome Cluster in Exons 18–20, a Domain Important for Host Cell Recognition  Anna Richards, Mark R. Buddles,"— Presentation transcript:

1 Factor H Mutations in Hemolytic Uremic Syndrome Cluster in Exons 18–20, a Domain Important for Host Cell Recognition  Anna Richards, Mark R. Buddles, Rosemary L. Donne, Bernard S. Kaplan, Edwin Kirk, Michael C. Venning, Christian L. Tielemans, Judith A. Goodship, Timothy H.J. Goodship  The American Journal of Human Genetics  Volume 68, Issue 2, Pages (February 2001) DOI: /318203 Copyright © 2001 The American Society of Human Genetics Terms and Conditions

2 Figure 1 Comparison of CCP19 and 20 wild-type amino acid sequence with the predicted sequence in patient 1 with delA3559. The abnormal amino acids are highlighted. The vertical line indicates the boundary between CCP 19 and 20. The American Journal of Human Genetics  , DOI: ( /318203) Copyright © 2001 The American Society of Human Genetics Terms and Conditions

3 Figure 2 Amino acid sequence of the last two carboxy terminal CCPs for human, mouse, and sand bass FH and for human FHR1, 2, 3, and 4. The degree of homology at the mutation sites for patients 2, 3, 4, and 5 are shown by highlighting. The American Journal of Human Genetics  , DOI: ( /318203) Copyright © 2001 The American Society of Human Genetics Terms and Conditions


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