Factor H genotype-phenotype correlations: lessons from aHUS, MPGN II, and AMD.
editorial · Level V
Where this comes from
- Record sourced from PubMed, PMID 16810287.
- No licence information is recorded for this record.
- Because redistribution is not established, this page shows the abstract only. Follow the links below for the full text.
Abstract
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.
Medical subject headings
- Complement Factor H
- Glomerulonephritis, Membranoproliferative
- Hemolytic-Uremic Syndrome
- Macular Degeneration