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Lack of fibulin-3 causes early aging and herniation, but not macular degeneration in mice

13 Sept 2007

Abstract excerpt

A mutation in the EFEMP1 gene causes Malattia Leventinese, an inherited macular degenerative disease with strong similarities to age-related macular degeneration. EFEMP1 encodes fibulin-3, an extracellular matrix protein of unknown function. To investigate its biological role, the murine Efemp1 gene was inactivated through targeted disruption. Efemp1(-/-) mice exhibited reduced reproductivity, and displayed an...

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PMID: 17872905
DOI: 10.1093/hmg/ddm264

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