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Article

Patients with premature coronary artery disease who carry the ABCC6 R1141X mutation have no Pseudoxanthoma Elasticum phenotype.

International journal of cardiology - 28 Apr 2005

Wegman Jurgen J, Hu Xiaofeng, Tan Hendra, Bergen Arthur A B, Trip Mieke D, Kastelein John J P, Smulders Yvo M

Abstract excerpt

BACKGROUND: Pseudoxanthoma elasticum (PXE) is an inherited disorder of elastic tissue. We recently found that heterozygosity for the frequent (0.8% prevalence in Dutch population) R1141X mutation in the PXE gene coding for the ABCC6 transporter, is associated with a fourfold risk of premature coronary artery disease. Yet, it is not clear whether or not heterozygosity for this mutation results in a mild PXE...

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Source

Identifiers

PMID: 15837081
DOI: 10.1016/j.ijcard.2004.07.012

Genes

ABCC6

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.

Related research

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Patients with premature coronary artery disease who carry the ABCC6 R1141X mutation have no Pseudoxanthoma Elasticum phenotype.PMID 15837081Read ↗

Frequent mutation in the ABCC6 gene (R1141X) is associated with a strong increase in the prevalence of coronary artery disease.Semantic proximity Read ↗

Heterozygosity for R1141X in ABCC6 and risk of ischemic vascular disease.Semantic proximity Read ↗

The R1141X loss-of-function mutation of the ABCC6 gene is a strong genetic risk factor for coronary artery disease.Semantic proximity Read ↗

Clinical and histopathological characteristics of a family with R1141X mutation of pseudoxanthoma elasticum - presymptomatic testing and lack of carrier phenotypes.Semantic proximity Read ↗

Analysis of the frequent R1141X mutation in the ABCC6 gene in pseudoxanthoma elasticum.Semantic proximity Read ↗

Analysis of clinical symptoms and ABCC 6 mutations in 76 Japanese patients with pseudoxanthoma elasticumSemantic proximity Read ↗

Mutational spectrum and deep phenotyping in Pseudoxanthoma Elasticum: Findings from a Portuguese cohort.Semantic proximity Read ↗

Pseudoxanthoma elasticum: Wide phenotypic variation in homozygotes and no signs in heterozygotes for the c.3775delT mutation in ABCC6.Semantic proximity Read ↗

Heterozygosity for a single mutation in the ABCC6 gene may closely mimic PXE: consequences of this phenotype overlap for the definition of PXE.Semantic proximity Read ↗

Characterization of cardiovascular involvement in pseudoxanthoma elasticum families.Semantic proximity Read ↗

Novel mutations in the ABCC6 gene of German patients with pseudoxanthoma elasticum.Semantic proximity Read ↗

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