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Article

Acute myocardial infarction and a new ABCC6 mutation in a 16-year-old boy with pseudoxanthoma elasticum.

International journal of cardiology - 20 Mar 2007

Kieć-Wilk Beata, Surdacki Andrzej, Dembińska-Kieć Aldona, Michalowska Joanna, Stachura-Dereń Maria, Dubiel Jacek S, Dudek Dariusz, Rakowski Tomasz, Szastak Grzegorz, Bodzioch Marek, Aslanidis Charalampos, Schmitz Gerd

Abstract excerpt

Pseudoxanthoma elasticum is caused by mutations of the ABCC6 gene. We hereby report a case of pseudoxanthoma elasticum with clinical features dominated by early coronary involvement in addition to typical skin and ocular abnormalities. A 16-year-old survivor of acute myocardial infarction with 3-vessel coronary artery disease exhibited compound heterozygosity for the well-known nonsense mutation (c.3421C>T;...

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Source

Identifiers

PMID: 16854481
DOI: 10.1016/j.ijcard.2006.02.022

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.

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Acute myocardial infarction and a new ABCC6 mutation in a 16-year-old boy with pseudoxanthoma elasticum.PMID 16854481Read ↗

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Compound heterozygosity for a recurrent 16.5-kb Alu-mediated deletion mutation and single-base-pair substitutions in the ABCC6 gene results in pseudoxanthoma elasticum.Semantic proximity Read ↗

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

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

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