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Sensitivity and Specificity of Denaturing HPLC to Detect MYBPC3 Gene Mutations in Hypertrophic Cardiomyopathy
https://repository.lib.tottori-u.ac.jp/records/5033
https://repository.lib.tottori-u.ac.jp/records/50336af5fa68-05a0-47c3-867b-1d27ae5d78e2
| 名前 / ファイル | ライセンス | アクション |
|---|---|---|
52_121-125(1).pdf (88.0 kB)
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| Item type | 学術雑誌論文 / Journal Article(1) | |||||
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| 公開日 | 2018-06-22 | |||||
| タイトル | ||||||
| タイトル | Sensitivity and Specificity of Denaturing HPLC to Detect MYBPC3 Gene Mutations in Hypertrophic Cardiomyopathy | |||||
| 言語 | en | |||||
| 言語 | ||||||
| 言語 | eng | |||||
| キーワード | ||||||
| 主題 | cardiac myosin-binding protein C gene | |||||
| キーワード | ||||||
| 主題 | denaturing high-performance liquid chroma-tography | |||||
| キーワード | ||||||
| 主題 | hypertrophic cardiomyopathy | |||||
| キーワード | ||||||
| 主題 | mutation detection | |||||
| キーワード | ||||||
| 言語 | en | |||||
| 主題 | cardiac myosin-binding protein C gene | |||||
| キーワード | ||||||
| 言語 | en | |||||
| 主題 | denaturing high-performance liquid chroma-tography | |||||
| キーワード | ||||||
| 言語 | en | |||||
| 主題 | hypertrophic cardiomyopathy | |||||
| キーワード | ||||||
| 言語 | en | |||||
| 主題 | mutation detection | |||||
| 資源タイプ | ||||||
| 資源タイプ | journal article | |||||
| 著者 |
Bahrudin, Udin
× Bahrudin, Udin× Mizuta, Einosuke× Dewi, Ariani Mahayu× Nindita, Yora× Hisatome, Ichiro× Bahrudin, Udin× Mizuta, Einosuke× Dewi, Ariani Mahayu× Nindita, Yora |
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| 著者所属 | ||||||
| 値 | Division of Regenerative Medicine and Therapeutics, Institute of Regenerative Medicine and Bio-function, Tottori University Graduate School of Medical Science | |||||
| 著者所属 | ||||||
| 値 | Division of Regenerative Medicine and Therapeutics, Institute of Regenerative Medicine and Bio-function, Tottori University Graduate School of Medical Science | |||||
| 著者所属 | ||||||
| 値 | Division of Functional Genomics, Research Center for Bioscience and Technology, Tottori University | |||||
| 著者所属 | ||||||
| 値 | Division of Regenerative Medicine and Therapeutics, Institute of Regenerative Medicine and Bio-function, Tottori University Graduate School of Medical Science | |||||
| 著者所属 | ||||||
| 値 | Division of Regenerative Medicine and Therapeutics, Institute of Regenerative Medicine and Bio-function, Tottori University Graduate School of Medical Science | |||||
| 抄録 | ||||||
| 内容記述タイプ | Other | |||||
| 内容記述 | Denaturing high-performance liquid chromatography (DHPLC), which has recently been developed as an automated method to detect mutations, is at least ten times less expensive than the direct sequencing method; however, its sensitivity and specificity for cardiac myosin-binding protein C (MYBPC3) gene mutations in hypertrophic cardiomyopathy have not been reported yet. A mutation analysis of exons 1 to 35 of MYBPC3 gene from 20 Japanese patients with hypertrophic cardiomyopathy was performed using DHPLC and direct sequencing. Compared to direct sequencing, the sensitivity and specificity of DHPLC were 87.5% and 97.42%, respectively. Its positive and negative predictive values were 41.18% and 99.74%. The positive and negative likelihood ratios were 33.95 and 0.13, and the prevalence was 2.02%. DHPLC showed high sensitivity and specificity for detecting MYBPC3 gene mutations in hypertrophic cardiomyopathy. The use of this complementary sequencing method should reduce the cost of detection of MYBPC3 gene mutations, and could be used to screen patients with hypertrophic cardiomyopathy. | |||||
| 書誌情報 |
Yonago Acta medica en : Yonago Acta medica 巻 52, 号 4, p. 121-125, 発行日 2009-12 |
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| 出版者 | ||||||
| 出版者 | Tottori University Faculty of Medicine | |||||
| ISSN | ||||||
| 収録物識別子タイプ | ISSN | |||||
| 収録物識別子 | 13468049 | |||||
| 書誌レコードID | ||||||
| 収録物識別子タイプ | NCID | |||||
| 収録物識別子 | AA00892882 | |||||
| 権利 | ||||||
| 権利情報 | Yonago Acta medica 編集委員会 | |||||
| 情報源 | ||||||
| 関連名称 | Yonago Acta medica. 2009, 52(4), 121-125 | |||||
| 著者版フラグ | ||||||
| 出版タイプ | VoR | |||||
