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Article

Biophysical characterisation of fibulin-5 proteins associated with disease.

Journal of molecular biology - 27 Aug 2010

Schneider Ralf, Jensen Sacha A, Whiteman Pat, McCullagh James S O, Redfield Christina, Handford Penny A

Abstract excerpt

FBLN5 encodes fibulin-5, an extracellular matrix calcium-binding glycoprotein that is essential for elastic fibre formation. FBLN5 mutations are associated with two distinct human diseases, age-related macular degeneration (AMD) and cutis laxa (CL), but the biochemical basis for the pathogenic effects of these mutations is poorly understood. Two missense mutations found in AMD patients (I169T and G267S) and two...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 20599547
DOI: 10.1016/j.jmb.2010.06.039

Genes

FBLN5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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