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Article

A rare variant in CFH directly links age-related macular degeneration with rare glomerular nephropathies.

Nature genetics - 28 Nov 2011

Wright Alan F

Abstract excerpt

A careful analysis of risk haplotypes in relation to age-related macular degeneration (AMD) susceptibility has led to the identification of a rare, high-penetrance variant in the complement factor H (CFH) gene that is also causally associated with atypical hemolytic uremic syndrome (aHUS) and related glomerulopathies. This finding provides a convincing causal mechanism linking the two diseases and develops a...

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Source

Identifiers

PMID: 22120053
DOI: 10.1038/ng.1012

Genes

CFH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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