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Article

SPP1 Promoter Polymorphisms: Identification of the First Modifier Gene for Pseudoxanthoma Elasticum

24 Mar 2007

Abstract excerpt

BACKGROUND: Progressive calcification and fragmentation of elastic fibers are characteristic hallmarks of pseudoxanthoma elasticum (PXE), which is caused by mutations in ABCC6 encoding multidrug resistance-associated protein 6 (MRP6). Because of the great clinical variability of PXE, secondary genetic risk factors are suspected to exist. We investigated whether SPP1 (secreted phosphoprotein 1; previously OPN,...

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Identifiers

PMID: 17384004
DOI: 10.1373/clinchem.2006.083675

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Source receipt: pubmed, retrieved 7 Sept 2026.

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SPP1 Promoter Polymorphisms: Identification of the First Modifier Gene for Pseudoxanthoma ElasticumPMID 17384004Read ↗

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