{"created":"2023-07-27T06:51:35.392836+00:00","id":45070,"links":{},"metadata":{"_buckets":{"deposit":"913b6c34-8cf7-4b55-b950-0ecbe799a95b"},"_deposit":{"created_by":18,"id":"45070","owners":[18],"pid":{"revision_id":0,"type":"depid","value":"45070"},"status":"published"},"_oai":{"id":"oai:kanazawa-u.repo.nii.ac.jp:00045070","sets":["2812:2813:2818"]},"author_link":["513","21335"],"item_9_biblio_info_8":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2016-06-09","bibliographicIssueDateType":"Issued"},"bibliographicPageStart":"4p.","bibliographicVolumeNumber":"2014-08-29 - 2016-03-31","bibliographic_titles":[{"bibliographic_title":"平成27(2015)年度 科学研究費補助金 研究活動スタート支援 研究成果報告書"},{"bibliographic_title":"2015 Fiscal Year Final Research Report","bibliographic_titleLang":"en"}]}]},"item_9_creator_33":{"attribute_name":"著者別表示","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{}],"nameIdentifiers":[{},{}]}]},"item_9_description_21":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"LDL受容体変異が同定されたが、新規分子の同定には至らなかった。国際共同研究の結果、同様の41家系のうち、9家系において責任変異の同定に至ったが、やはり新規分子の同定には至らなかった。また劣性形式のFH家系に対して同様に解析を行ったが、LDL受容体に突然変異（c.1136G>A or p.Cys379Tyr）が確認された。本症においてこのような報告は世界初であると思われる。また、全エクソーム領域の中で、突然変異は1個程度起こり得ることは、これまでの網羅的遺伝子解析により推定されていたが、我々の解析においてこの現象を再現することができた。人類遺伝学的にも貴重なデータであると思われる。","subitem_description_type":"Abstract"},{"subitem_description":"We identified a pathogenic mutation in LDL receptor gene, but could not lead to the identification of any novel genes. We conducted an international collaboration, collecting similar cases, leading to conclude that success rate of genetic analysis was ~20%. In addition, we identified a family with de novo mutation in LDL receptor gene, which, was the novel findings at least in the cases with familial hypercholesterolemia in an exome-wide manner.","subitem_description_type":"Abstract"}]},"item_9_description_22":{"attribute_name":"内容記述","attribute_value_mlt":[{"subitem_description":"研究課題/領域番号:26893094, 研究期間(年度):2014-08-29 - 2016-03-31","subitem_description_type":"Other"},{"subitem_description":"出典：研究課題「家族性高コレステロール血症の新規原因遺伝子の網羅的解析」課題番号26893094\n（KAKEN：科学研究費助成事業データベース（国立情報学研究所）） \n（https://kaken.nii.ac.jp/report/KAKENHI-PROJECT-26893094/26893094seika/）を加工して作成","subitem_description_type":"Other"}]},"item_9_description_5":{"attribute_name":"提供者所属","attribute_value_mlt":[{"subitem_description":"金沢大学附属病院","subitem_description_type":"Other"}]},"item_9_identifier_registration":{"attribute_name":"ID登録","attribute_value_mlt":[{"subitem_identifier_reg_text":"10.24517/00051409","subitem_identifier_reg_type":"JaLC"}]},"item_9_relation_28":{"attribute_name":"関連URI","attribute_value_mlt":[{"subitem_relation_name":[{"subitem_relation_name_text":"https://kaken.nii.ac.jp/search/?qm=90623653"}],"subitem_relation_type_id":{"subitem_relation_type_id_text":"https://kaken.nii.ac.jp/search/?qm=90623653","subitem_relation_type_select":"URI"}},{"subitem_relation_name":[{"subitem_relation_name_text":"https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-26893094/"}],"subitem_relation_type_id":{"subitem_relation_type_id_text":"https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-26893094/","subitem_relation_type_select":"URI"}},{"subitem_relation_name":[{"subitem_relation_name_text":"https://kaken.nii.ac.jp/report/KAKENHI-PROJECT-26893094/26893094seika/"}],"subitem_relation_type_id":{"subitem_relation_type_id_text":"https://kaken.nii.ac.jp/report/KAKENHI-PROJECT-26893094/26893094seika/","subitem_relation_type_select":"URI"}}]},"item_9_version_type_25":{"attribute_name":"著者版フラグ","attribute_value_mlt":[{"subitem_version_resource":"http://purl.org/coar/version/c_ab4af688f83e57aa","subitem_version_type":"AM"}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2018-07-05"}],"displaytype":"detail","filename":"HO-PR-TADA-H-kaken 2016-4p.pdf","filesize":[{"value":"557.4 kB"}],"format":"application/pdf","licensetype":"license_11","mimetype":"application/pdf","url":{"label":"HO-PR-TADA-H-kaken 2016-4p.pdf","url":"https://kanazawa-u.repo.nii.ac.jp/record/45070/files/HO-PR-TADA-H-kaken 2016-4p.pdf"},"version_id":"0e534866-49cd-409a-a687-837f23b3d143"}]},"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":"research report","resourceuri":"http://purl.org/coar/resource_type/c_18ws"}]},"item_title":"家族性高コレステロール血症の新規原因遺伝子の網羅的解析","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"家族性高コレステロール血症の新規原因遺伝子の網羅的解析"},{"subitem_title":"Comprehensive genetic analysis for the patients with familial hypercholesterolemia","subitem_title_language":"en"}]},"item_type_id":"9","owner":"18","path":["2818"],"pubdate":{"attribute_name":"公開日","attribute_value":"2018-07-05"},"publish_date":"2018-07-05","publish_status":"0","recid":"45070","relation_version_is_last":true,"title":["家族性高コレステロール血症の新規原因遺伝子の網羅的解析"],"weko_creator_id":"18","weko_shared_id":-1},"updated":"2023-07-27T10:55:33.030157+00:00"}