A novel mutation ApoE2 Kurashiki (R158P) in a patient with lipoprotein glomerulopathy
Lipoprotein glomerulopathy (LPG) is a rare glomerulopathy caused by lipoprotein thrombi. In almost all cases of LPG, several apolipoprotein (apo) E mutations were reported. Here, we present a case of LPG caused by a novel mutation that we named ApoE2 Kurashiki, which substitutes arginine with proline at apoE codon 158. ApoE2 polymorphism is well known for its relationship to type III hyperlipoproteinemia, and the common apoE2 isoform is encoded by the R158C allele. ApoE2 Kurashiki substitutes at the same codon and cannot be distinguished from common apoE2 by stan-dard apoE genotyping or phenotyping.
| Errataetall: |
CommentIn: J Atheroscler Thromb. 2011;18(6):542-3. - PMID 21670560 |
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| Medienart: |
E-Artikel |
| Erscheinungsjahr: |
2011 |
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| Erschienen: |
2011 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:18 |
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| Enthalten in: |
Journal of atherosclerosis and thrombosis - 18(2011), 6 vom: 26., Seite 536-41 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Tokura, Takehiko [VerfasserIn] |
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| Themen: |
9007-49-2 |
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| Anmerkungen: |
Date Completed 15.11.2011 Date Revised 08.06.2019 published: Print-Electronic CommentIn: J Atheroscler Thromb. 2011;18(6):542-3. - PMID 21670560 Citation Status MEDLINE |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM207234221 |
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| 100 | 1 | |a Tokura, Takehiko |e verfasserin |4 aut | |
| 245 | 1 | 2 | |a A novel mutation ApoE2 Kurashiki (R158P) in a patient with lipoprotein glomerulopathy |
| 264 | 1 | |c 2011 | |
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a ƒaComputermedien |b c |2 rdamedia | ||
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| 500 | |a Date Completed 15.11.2011 | ||
| 500 | |a Date Revised 08.06.2019 | ||
| 500 | |a published: Print-Electronic | ||
| 500 | |a CommentIn: J Atheroscler Thromb. 2011;18(6):542-3. - PMID 21670560 | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a Lipoprotein glomerulopathy (LPG) is a rare glomerulopathy caused by lipoprotein thrombi. In almost all cases of LPG, several apolipoprotein (apo) E mutations were reported. Here, we present a case of LPG caused by a novel mutation that we named ApoE2 Kurashiki, which substitutes arginine with proline at apoE codon 158. ApoE2 polymorphism is well known for its relationship to type III hyperlipoproteinemia, and the common apoE2 isoform is encoded by the R158C allele. ApoE2 Kurashiki substitutes at the same codon and cannot be distinguished from common apoE2 by stan-dard apoE genotyping or phenotyping | ||
| 650 | 4 | |a Case Reports | |
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Research Support, Non-U.S. Gov't | |
| 650 | 7 | |a Apolipoprotein E2 |2 NLM | |
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| 650 | 7 | |a 9007-49-2 |2 NLM | |
| 700 | 1 | |a Itano, Seiji |e verfasserin |4 aut | |
| 700 | 1 | |a Kobayashi, Shinya |e verfasserin |4 aut | |
| 700 | 1 | |a Kuwabara, Atsunori |e verfasserin |4 aut | |
| 700 | 1 | |a Fujimoto, Sohachi |e verfasserin |4 aut | |
| 700 | 1 | |a Horike, Hideyuki |e verfasserin |4 aut | |
| 700 | 1 | |a Satoh, Minoru |e verfasserin |4 aut | |
| 700 | 1 | |a Komai, Norio |e verfasserin |4 aut | |
| 700 | 1 | |a Tomita, Naruya |e verfasserin |4 aut | |
| 700 | 1 | |a Matsunaga, Akira |e verfasserin |4 aut | |
| 700 | 1 | |a Saito, Takao |e verfasserin |4 aut | |
| 700 | 1 | |a Sasaki, Tamaki |e verfasserin |4 aut | |
| 700 | 1 | |a Kashihara, Naoki |e verfasserin |4 aut | |
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