{"created":"2023-07-27T06:31:41.094854+00:00","id":17198,"links":{},"metadata":{"_buckets":{"deposit":"c8bad223-5c25-4c53-85d2-be4bc5c7d08d"},"_deposit":{"created_by":3,"id":"17198","owners":[3],"pid":{"revision_id":0,"type":"depid","value":"17198"},"status":"published"},"_oai":{"id":"oai:kanazawa-u.repo.nii.ac.jp:00017198","sets":["1132:1137:1270:1327"]},"author_link":["30874"],"item_7_biblio_info_8":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2001-08-01","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"4・5","bibliographicPageEnd":"242","bibliographicPageStart":"227","bibliographicVolumeNumber":"110","bibliographic_titles":[{"bibliographic_title":"金沢大学十全医学会雑誌"}]}]},"item_7_description_16":{"attribute_name":"その他の識別子","attribute_value_mlt":[{"subitem_description":"2002106882","subitem_description_type":"Other"}]},"item_7_description_21":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"北陸地方在住の異なる168家系のHCM発端者について,心筋βMHC遺伝子異常の頻度,種類,遺伝子変異と表現型の関係について検討した.患者末梢血白血球より高分子DNAを抽出し,心筋βMHC遺伝子のエクソン3からエクソン24迄の領域についてPCRによりDNA断片を増幅した.その後,PCR一本鎖コンフォメーション多型法および直接塩基配列決定法により遺伝子変異を同定し,PCR制限酵素切断多型法を用いて遺伝子変異の確認を行った.HCM発端者168名における検討で,7種類の心筋βミオシン重鎖遺伝子変異を見出し,この内4種類は新変異であった.北陸地方の肥大型心筋症における心筋βミオシン重鎖遺伝子変異の頻度は6.0%であった.βMHC遺伝子変異における臨床病型には,荷電変化の有無よりも遺伝子変異の存在する機能部位が深く関わっている可能性が示唆された","subitem_description_type":"Abstract"}]},"item_7_description_22":{"attribute_name":"内容記述","attribute_value_mlt":[{"subitem_description":"原著論文","subitem_description_type":"Other"}]},"item_7_description_5":{"attribute_name":"提供者所属","attribute_value_mlt":[{"subitem_description":"金沢大学医系研究循環医","subitem_description_type":"Other"}]},"item_7_source_id_11":{"attribute_name":"NCID","attribute_value_mlt":[{"subitem_source_identifier":"AN00044397","subitem_source_identifier_type":"NCID"}]},"item_7_source_id_9":{"attribute_name":"ISSN","attribute_value_mlt":[{"subitem_source_identifier":"0022-7226","subitem_source_identifier_type":"ISSN"}]},"item_creator":{"attribute_name":"著者","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"江本, 従道"}],"nameIdentifiers":[{"nameIdentifier":"30874","nameIdentifierScheme":"WEKO"}]}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2017-10-04"}],"displaytype":"detail","filename":"C0000002237-007-emoto.pdf","filesize":[{"value":"2.2 MB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"C0000002237-007-emoto.pdf","url":"https://kanazawa-u.repo.nii.ac.jp/record/17198/files/C0000002237-007-emoto.pdf"},"version_id":"31017e13-56c4-4c5b-bf1f-877948a16a59"}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"筋節","subitem_subject_scheme":"Other"},{"subitem_subject":"心筋症-肥大性(遺伝学)","subitem_subject_scheme":"Other"},{"subitem_subject":"心筋","subitem_subject_scheme":"Other"},{"subitem_subject":"RFLP","subitem_subject_scheme":"Other"},{"subitem_subject":"変異","subitem_subject_scheme":"Other"},{"subitem_subject":"分子生物学","subitem_subject_scheme":"Other"},{"subitem_subject":"Myosin Heavy Chains","subitem_subject_scheme":"Other"},{"subitem_subject":"SSCP","subitem_subject_scheme":"Other"},{"subitem_subject":"突然死-心臓","subitem_subject_scheme":"Other"},{"subitem_subject":"　ヒト","subitem_subject_scheme":"Other"}]},"item_language":{"attribute_name":"言語","attribute_value_mlt":[{"subitem_language":"jpn"}]},"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":"肥大型心筋症における心筋β-ミオシン重鎖遺伝子変異と臨床像に関する分子遺伝学的研究","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"肥大型心筋症における心筋β-ミオシン重鎖遺伝子変異と臨床像に関する分子遺伝学的研究"}]},"item_type_id":"7","owner":"3","path":["1327"],"pubdate":{"attribute_name":"公開日","attribute_value":"2017-10-04"},"publish_date":"2017-10-04","publish_status":"0","recid":"17198","relation_version_is_last":true,"title":["肥大型心筋症における心筋β-ミオシン重鎖遺伝子変異と臨床像に関する分子遺伝学的研究"],"weko_creator_id":"3","weko_shared_id":-1},"updated":"2023-07-28T00:06:43.894847+00:00"}