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Article

Reduced secretion of fibulin 5 in age-related macular degeneration and cutis laxa.

Human mutation - 1 Jun 2006

Lotery Andrew J, Baas Dominique, Ridley Caroline, Jones Richard P O, Klaver Caroline C W, Stone Edwin, Nakamura Tomoyuki, Luff Andrew, Griffiths Helen, Wang Tao, Bergen Arthur A B, Trump Dorothy

Abstract excerpt

Age-related macular degeneration (ARMD) is the leading cause of irreversible visual loss in the Western world, affecting approximately 25 million people worldwide. The pathogenesis is complex and missense mutations in FBLN5 have been reported in association with ARMD. We have investigated the role of fibulin 5 in ARMD by completing the first European study of the gene FBLN5 in ARMD (using 2 European cohorts of...

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Identifiers

PMID: 16652333
DOI: 10.1002/humu.20344
PMCID: PMC1828612

Genes

FBLN5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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