{"created":"2023-07-27T06:31:40.061364+00:00","id":17174,"links":{},"metadata":{"_buckets":{"deposit":"4e3e6515-b0cc-4282-873a-f5c87e6e6a63"},"_deposit":{"created_by":3,"id":"17174","owners":[3],"pid":{"revision_id":0,"type":"depid","value":"17174"},"status":"published"},"_oai":{"id":"oai:kanazawa-u.repo.nii.ac.jp:00017174","sets":["1132:1137:1270:1325"]},"author_link":["30855"],"item_7_biblio_info_8":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2002-02-01","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"1","bibliographicPageEnd":"19","bibliographicPageStart":"2","bibliographicVolumeNumber":"111","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":"2002215805","subitem_description_type":"Other"}]},"item_7_description_21":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"日本人(北陸地方)弾性線維性仮性黄色腫症(PXE)患者6名とその家族を対象に,ATP-binding cassette transporter C6(ABCC6)遺伝子変異をPCR-一本鎖構成体多型法,直接塩基配列決定法,変異アリル特異的制限酵素切断法を用いて検討した.遺伝子検索の結果,R1221C,R1357W,Q378X,2542delG見出した.R1221C,R1357Wは報告がなく,新しい変異と考えられた.日本人PEX患者では,Q378X,2542delG変異の頻度が高い可能性が示唆された.白人患者で頻度の高いとされるR1141X,ABCC6del23-29は検出されず,人種による遺伝子異常の様式の違いが考えられた.Q378Xには偽遺伝子からの遺伝子変換が関与がしていると考えられるが,白人での報告と比較して頻度が高い可能性があり,日本人のPEX発症の共通変異として関与している可能性が示唆された.遺伝子型と表現型の関連については,明らかなものは発見されなかった","subitem_description_type":"Abstract"}]},"item_7_description_22":{"attribute_name":"内容記述","attribute_value_mlt":[{"subitem_description":"原著論文/症例報告","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":"野路, 善博"}],"nameIdentifiers":[{"nameIdentifier":"30855","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":"C0000002237-009-noji.pdf","filesize":[{"value":"3.7 MB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"C0000002237-009-noji.pdf","url":"https://kanazawa-u.repo.nii.ac.jp/record/17174/files/C0000002237-009-noji.pdf"},"version_id":"567c46bb-c7f6-4887-8994-634b78c20f0d"}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"ヘテロ接合体","subitem_subject_scheme":"Other"},{"subitem_subject":"遺伝子","subitem_subject_scheme":"Other"},{"subitem_subject":"劣性遺伝子","subitem_subject_scheme":"Other"},{"subitem_subject":"仮性黄色腫-弾力線維性(病因,遺伝学)","subitem_subject_scheme":"Other"},{"subitem_subject":"偽遺伝子","subitem_subject_scheme":"Other"},{"subitem_subject":"ATP-Binding Cassette Transporters","subitem_subject_scheme":"Other"},{"subitem_subject":"SSCP","subitem_subject_scheme":"Other"},{"subitem_subject":"エクソン","subitem_subject_scheme":"Other"},{"subitem_subject":"配列欠失","subitem_subject_scheme":"Other"},{"subitem_subject":"DNA配列分析Human ABCC6 Protein","subitem_subject_scheme":"Other"},{"subitem_subject":"　ヒト","subitem_subject_scheme":"Other"},{"subitem_subject":"成人(19～44)","subitem_subject_scheme":"Other"},{"subitem_subject":"中年(45～64)","subitem_subject_scheme":"Other"},{"subitem_subject":"老年者(65～)","subitem_subject_scheme":"Other"},{"subitem_subject":"男","subitem_subject_scheme":"Other"},{"subitem_subject":"女","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":"弾性線維性仮性黄色腫症におけるアデノシン3リン酸結合カセットトランスポーターC6(ATP-binding cassette transporter C6,ABCC6)遺伝子の解析","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"弾性線維性仮性黄色腫症におけるアデノシン3リン酸結合カセットトランスポーターC6(ATP-binding cassette transporter C6,ABCC6)遺伝子の解析"}]},"item_type_id":"7","owner":"3","path":["1325"],"pubdate":{"attribute_name":"公開日","attribute_value":"2017-10-04"},"publish_date":"2017-10-04","publish_status":"0","recid":"17174","relation_version_is_last":true,"title":["弾性線維性仮性黄色腫症におけるアデノシン3リン酸結合カセットトランスポーターC6(ATP-binding cassette transporter C6,ABCC6)遺伝子の解析"],"weko_creator_id":"3","weko_shared_id":-1},"updated":"2023-07-28T00:07:04.942778+00:00"}