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  1. 学部学科区分一覧
  2. 医学部・医学系研究科・医学部附属病院
  1. 資料タイプ一覧
  2. 学術雑誌論文
  1. 鳥取大学の刊行物
  2. Yonago Acta Medica
  3. 52
  4. 4

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/5033
6af5fa68-05a0-47c3-867b-1d27ae5d78e2
名前 / ファイル ライセンス アクション
52_121-125(1).pdf 52_121-125(1).pdf (88.0 kB)
Item type 学術雑誌論文 / Journal Article(1)
公開日 2018-06-22
タイトル
言語 en
タイトル Sensitivity and Specificity of Denaturing HPLC to Detect MYBPC3 Gene Mutations in Hypertrophic Cardiomyopathy
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

WEKO 18482

Bahrudin, Udin

Search repository
Mizuta, Einosuke

× Mizuta, Einosuke

WEKO 18483

Mizuta, Einosuke

Search repository
Dewi, Ariani Mahayu

× Dewi, Ariani Mahayu

WEKO 18484

Dewi, Ariani Mahayu

Search repository
Nindita, Yora

× Nindita, Yora

WEKO 18485

Nindita, Yora

Search repository
Hisatome, Ichiro

× Hisatome, Ichiro

WEKO 765
e-Rad 60211504
研究者総覧鳥取大学 100000307

Hisatome, Ichiro

en Hisatome, Ichiro

Search repository
Bahrudin, Udin

× Bahrudin, Udin

WEKO 18486

en Bahrudin, Udin

Search repository
Mizuta, Einosuke

× Mizuta, Einosuke

WEKO 18487

en Mizuta, Einosuke

Search repository
Dewi, Ariani Mahayu

× Dewi, Ariani Mahayu

WEKO 18488

en Dewi, Ariani Mahayu

Search repository
Nindita, Yora

× Nindita, Yora

WEKO 18489

en Nindita, Yora

Search repository
著者所属
Division of Regenerative Medicine and Therapeutics, Institute of Regenerative Medicine and Bio-function, Tottori University Graduate School of Medical Science
著者所属
Division of Regenerative Medicine and Therapeutics, Institute of Regenerative Medicine and Bio-function, Tottori University Graduate School of Medical Science
著者所属
Division of Functional Genomics, Research Center for Bioscience and Technology, Tottori University
著者所属
Division of Regenerative Medicine and Therapeutics, Institute of Regenerative Medicine and Bio-function, Tottori University Graduate School of Medical Science
著者所属
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
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
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