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Molecular genetic epidemiology of homozygous familial hypercholesterolemia in the Hokuriku district of Japan
http://hdl.handle.net/2297/26224
http://hdl.handle.net/2297/262243a99d1cf-0cf7-4c64-9087-db68ace25ba5
| 名前 / ファイル | ライセンス | アクション |
|---|---|---|
ME-PR-MABUCHI-H-401.pdf (141.4 kB)
Download is available from 9999/12/31.
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| Item type | 学術雑誌論文 / Journal Article(1) | |||||
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| 公開日 | 2017-11-09 | |||||
| タイトル | ||||||
| タイトル | Molecular genetic epidemiology of homozygous familial hypercholesterolemia in the Hokuriku district of Japan | |||||
| 言語 | ||||||
| 言語 | eng | |||||
| 資源タイプ | ||||||
| 資源タイプ識別子 | http://purl.org/coar/resource_type/c_6501 | |||||
| 資源タイプ | journal article | |||||
| 著者 |
Mabuchi, Hiroshi
× Mabuchi, Hiroshi× Nohara, Atsushi× Noguchi, Tohru× Kobayashi, Junji× Kawashiri, Masa-aki× Tada, Hayato× Nakanishi, Chiaki |
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| 提供者所属 | ||||||
| 内容記述タイプ | Other | |||||
| 内容記述 | 金沢大学医学系研究科 | |||||
| 書誌情報 |
Atherosclerosis 巻 214, 号 2, p. 401-407, 発行日 2011-02-01 |
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| ISSN | ||||||
| 収録物識別子タイプ | ISSN | |||||
| 収録物識別子 | 0021-9150 | |||||
| NCID | ||||||
| 収録物識別子タイプ | NCID | |||||
| 収録物識別子 | AA00553457 | |||||
| DOI | ||||||
| 関連タイプ | isVersionOf | |||||
| 識別子タイプ | DOI | |||||
| 関連識別子 | 10.1016/j.atherosclerosis.2010.11.005 | |||||
| 出版者 | ||||||
| 出版者 | Elsevier | |||||
| 抄録 | ||||||
| 内容記述タイプ | Abstract | |||||
| 内容記述 | Aim: Familial hypercholesterolemia (FH) is caused by mutations of FH genes, i.e. LDL-receptor (LDLR), PCSK9 and apolipoprotein B (ApoB) gene. We evaluated the usefulness of DNA analysis for the diagnosis of homozygous FH (homo-FH), and studied the frequency of FH in the Hokuriku district of Japan. Methods: Twenty-five homo-FH patients were recruited. LDLR mutations were identified using the Invader assay method. Mutations in PCSK9 were detected by PCR-SSCP followed by direct sequence analysis. Results: We confirmed 15 true homozygotes and 10 compound heterozygotes for LDLR mutations. Three types of double heterozygotes for LDLR and PCSK9 were found. No FH patients due to ApoB mutations were found. The incidences of homo-FH and hetero-FH in the Hokuriku district were 1/171,167 and 1/208, respectively. Conclusions: Our observations underlined the value of FH gene analysis in diagnosing homo-FH and confirmed extraordinarily high frequency of FH in the Hokuriku district of Japan. © 2010 Elsevier Ireland Ltd. All rights reserved. | |||||
| 著者版フラグ | ||||||
| 出版タイプ | AM | |||||
| 出版タイプResource | http://purl.org/coar/version/c_ab4af688f83e57aa | |||||
| 関連URI | ||||||
| 識別子タイプ | URI | |||||
| 関連識別子 | http://www.elsevier.com/locate/issn/00219150 | |||||
