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Genetic Analysis of Cardiacβ Myosin Heavy Chain(MHC)Gene in Seven Families with Hypertrophic Cardiomyopathy in Japan
http://hdl.handle.net/10069/15995
http://hdl.handle.net/10069/1599501b85eb8-3e45-4096-9827-4b716fd46be5
名前 / ファイル | ライセンス | アクション |
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acta39_01_34_t.pdf (762.6 kB)
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Item type | 紀要論文 / Departmental Bulletin Paper(1) | |||||
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公開日 | 2008-03-13 | |||||
タイトル | ||||||
タイトル | Genetic Analysis of Cardiacβ Myosin Heavy Chain(MHC)Gene in Seven Families with Hypertrophic Cardiomyopathy in 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 | departmental bulletin paper | |||||
著者 |
Hayashi, Ikuo
× Hayashi, Ikuo× Ashizawa, Naoto× Oku, Yasuhiko× Ozeki, Shinichiro× Ohtsuru, Akira× Yano, Katsusuke |
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抄録 | ||||||
内容記述タイプ | Abstract | |||||
内容記述 | The purpose of this study was to identify the presence of either mutation or polymorphism in the cardiac β myosin heavy chain (MHC) gene of the Japanese who had familial hypertrophic cardiomyopathy (FHCM). We analyzed exons 3-25 of the cardiac MHC gene in seven unrelated Japanese families (17 affected and 10 unaffected individual with HCM), using the polymerase chain reaction (PCR)-single strand conformation polymorphism (SSCP) analysis. Our study showed that affected members of one family (proband; I.I.) had an identical pattern of aberrantly migrating band of exon 21.Similarly we found polymorphism and probable point mutation located on exon 3 of one patient with sporadic HCM (Pt;T.M.). Both proband;I. I. and Pt; T.M., developed lethal congestive heart failure with left ventricular (LV) dilatation as confirmed by autopsy. This suggest that PCR-SSCP analysis is an useful tool for clinical screening of HCM. | |||||
書誌情報 |
Acta medica Nagasakiensia 巻 39, 号 1-3, p. 168-171, 発行日 1994-10-25 |
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ISSN | ||||||
収録物識別子タイプ | ISSN | |||||
収録物識別子 | 00016055 | |||||
書誌レコードID | ||||||
収録物識別子タイプ | NCID | |||||
収録物識別子 | AA00508430 | |||||
著者版フラグ | ||||||
出版タイプ | VoR | |||||
出版タイプResource | http://purl.org/coar/version/c_970fb48d4fbd8a85 | |||||
sortkey | ||||||
P00168-P00171 | ||||||
引用 | ||||||
内容記述タイプ | Other | |||||
内容記述 | Acta medica Nagasakiensia. 1994, 39(1-3), p.168-171 |