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Factor H genotype-phenotype correlations: Lessons from aHUS, MPGN II, and AMD

Lookup NU author(s): Professor Tim Goodship


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Missense mutations in the C-terminal region of Factor H are associated with atypical hemolytic uremic syndrome, whereas homozygous Factor H deficiency is more frequently associated with membranoproliferative glomerulonephritis type II (MPGN II). The report of Licht et al. of a mutation in the complement- regulatory N-terminal region of Factor H in MPGN II provides additional insight into the pathogenesis of this condition.

Publication metadata

Author(s): Goodship THJ

Publication type: Review

Publication status: Published

Journal: Kidney International

Year: 2006

Volume: 70

Issue: 1

Pages: 12-13

ISSN (print): 0085-2538

ISSN (electronic): 1523-1755


DOI: 10.1038/

PubMed id: 16810287