Kiec-Wilk, Beata and Surdacki, Andrzej and Dembinska-Kiec, Aldona and Michalowska, Joanna and Stachura-Deren, Maria and Dubiel, Jacek S. and Dudek, Dariusz and Rakowski, Tomasz and Szastak, Grzegorz and Bodzioch, Marek and Aslanidis, Charalampos and Schmitz, Gerd (2007) Acute myocardial infarction and a new ABCC6 mutation in a 16-year-old boy with pseudoxanthoma elasticum. INTERNATIONAL JOURNAL OF CARDIOLOGY, 116 (2). pp. 261-262. ISSN 0167-5273
Full text not available from this repository. (Request a copy)Abstract
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.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | pseudoxanthoma elasticum; ABCC6 gene; coronary artery disease; acute myocardial infarction |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Klinische Chemie und Laboratoriumsmedizin |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 10 Aug 2023 07:12 |
| Last Modified: | 10 Aug 2023 07:12 |
| URI: | https://pred.uni-regensburg.de/id/eprint/33032 |
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