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Article

Complement factor H variant p.Y402H in pseudoxanthoma elasticum patients.

Genetic testing - 1 Sept 2008

Götting Christian, Hendig Doris, Zarbock Ralf, Szliska Christiane, Kleesiek Knut

Abstract excerpt

Pseudoxanthoma elasticum (PXE) is a hereditary disorder predominantly affecting the eyes, the skin, and the vascular system. The subretinal neovascularization and retinal hemorrhages leading to the loss of central vision in PXE are similar to the process observed in age-related macular degeneration (AMD). The complement factor H (CFH) variant c.1277T > C (p.Y402H) is a recently discovered risk factor for AMD. The...

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Identifiers

PMID: 18627285
DOI: 10.1089/gte.2008.0026

Genes

CFH

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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