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
Alternative Links zum Volltext:DOIVerlag
| Dokumentenart: | Artikel |
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| Titel eines Journals oder einer Zeitschrift: | International Journal of Cardiology |
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| Verlag: | ELSEVIER IRELAND LTD |
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| Ort der Veröffentlichung: | CLARE |
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| Band: | 116 |
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| Nummer des Zeitschriftenheftes oder des Kapitels: | 2 |
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| Seitenbereich: | S. 261-262 |
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| Datum: | 2007 |
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| Institutionen: | Medizin > Lehrstuhl für Klinische Chemie und Laboratoriumsmedizin |
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| Identifikationsnummer: | | Wert | Typ |
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| 10.1016/j.ijcard.2006.02.022 | DOI |
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| Stichwörter / Keywords: | pseudoxanthoma elasticum; ABCC6 gene; coronary artery disease; acute myocardial infarction |
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| Dewey-Dezimal-Klassifikation: | 600 Technik, Medizin, angewandte Wissenschaften > 610 Medizin |
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| Status: | Veröffentlicht |
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| Begutachtet: | Ja, diese Version wurde begutachtet |
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| An der Universität Regensburg entstanden: | Ja |
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| Dokumenten-ID: | 69301 |
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Web of Science
Zusammenfassung
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 ...
Zusammenfassung
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; R1141X) in exon 24 and a novel missense mutation (c.3662G > A; R1221H) in exon 26 of the ABCC6 gene. (c) 2006 Elsevier Ireland Ltd. All rights reserved.
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