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Article

Variants in genes encoding pyrophosphate metabolizing enzymes are associated with Pseudoxanthoma elasticum.

Clinical biochemistry - 1 Oct 2014

Dabisch-Ruthe Mareike, Brock Alexander, Kuzaj Patricia, Charbel Issa Peter, Szliska Christiane, Knabbe Cornelius, Hendig Doris

Abstract excerpt

OBJECTIVES: Pseudoxanthoma elasticum (PXE) is a rare hereditary disorder characterized by progressive calcification and fragmentation of elastic fibers. Because of the great clinical variability between PXE patients the involvement of modifier genes was recently suggested. Therefore, we investigated the association of single nucleotide variants (SNVs) in selected candidate genes known to regulate cellular...

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Source

Identifiers

PMID: 25025693
DOI: 10.1016/j.clinbiochem.2014.07.003

Genes

MAF
ANKH
ENPP1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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