{"created":"2023-05-15T16:44:22.229162+00:00","id":20050,"links":{},"metadata":{"_buckets":{"deposit":"5cf49f78-985c-4752-9db8-5e9f98199256"},"_deposit":{"created_by":2,"id":"20050","owners":[2],"pid":{"revision_id":0,"type":"depid","value":"20050"},"status":"published"},"_oai":{"id":"oai:nagasaki-u.repo.nii.ac.jp:00020050","sets":["29:30:1713167819629:1386"]},"author_link":["84465","84466","84464","84467","84462","84463"],"item_3_biblio_info_6":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"1994-10-25","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"1-3","bibliographicPageEnd":"171","bibliographicPageStart":"168","bibliographicVolumeNumber":"39","bibliographic_titles":[{"bibliographic_title":"Acta medica Nagasakiensia"}]}]},"item_3_description_4":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"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.","subitem_description_type":"Abstract"}]},"item_3_description_64":{"attribute_name":"引用","attribute_value_mlt":[{"subitem_description":"Acta medica Nagasakiensia. 1994, 39(1-3), p.168-171","subitem_description_type":"Other"}]},"item_3_source_id_10":{"attribute_name":"書誌レコードID","attribute_value_mlt":[{"subitem_source_identifier":"AA00508430","subitem_source_identifier_type":"NCID"}]},"item_3_source_id_7":{"attribute_name":"ISSN","attribute_value_mlt":[{"subitem_source_identifier":"00016055","subitem_source_identifier_type":"ISSN"}]},"item_3_text_62":{"attribute_name":"sortkey","attribute_value_mlt":[{"subitem_text_value":"P00168-P00171"}]},"item_3_version_type_16":{"attribute_name":"著者版フラグ","attribute_value_mlt":[{"subitem_version_resource":"http://purl.org/coar/version/c_970fb48d4fbd8a85","subitem_version_type":"VoR"}]},"item_creator":{"attribute_name":"著者","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"Hayashi, Ikuo"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Ashizawa, Naoto"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Oku, Yasuhiko"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Ozeki, Shinichiro"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Ohtsuru, Akira"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Yano, Katsusuke"}],"nameIdentifiers":[{}]}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2020-12-23"}],"displaytype":"detail","filename":"acta39_01_34_t.pdf","filesize":[{"value":"762.6 kB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"acta39_01_34_t.pdf","url":"https://nagasaki-u.repo.nii.ac.jp/record/20050/files/acta39_01_34_t.pdf"},"version_id":"da4e9fda-7943-4d13-8ccb-284503a377e4"}]},"item_language":{"attribute_name":"言語","attribute_value_mlt":[{"subitem_language":"eng"}]},"item_resource_type":{"attribute_name":"資源タイプ","attribute_value_mlt":[{"resourcetype":"departmental bulletin paper","resourceuri":"http://purl.org/coar/resource_type/c_6501"}]},"item_title":"Genetic Analysis of Cardiacβ  Myosin Heavy Chain(MHC)Gene in Seven Families with Hypertrophic Cardiomyopathy in Japan","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"Genetic Analysis of Cardiacβ  Myosin Heavy Chain(MHC)Gene in Seven Families with Hypertrophic Cardiomyopathy in Japan"}]},"item_type_id":"3","owner":"2","path":["1386"],"pubdate":{"attribute_name":"公開日","attribute_value":"2008-03-13"},"publish_date":"2008-03-13","publish_status":"0","recid":"20050","relation_version_is_last":true,"title":["Genetic Analysis of Cardiacβ  Myosin Heavy Chain(MHC)Gene in Seven Families with Hypertrophic Cardiomyopathy in Japan"],"weko_creator_id":"2","weko_shared_id":-1},"updated":"2024-04-17T04:07:11.056081+00:00"}