{"created":"2023-07-27T06:31:40.277545+00:00","id":17179,"links":{},"metadata":{"_buckets":{"deposit":"7646f93b-3b4d-4b67-a7b1-937788bd3da3"},"_deposit":{"created_by":3,"id":"17179","owners":[3],"pid":{"revision_id":0,"type":"depid","value":"17179"},"status":"published"},"_oai":{"id":"oai:kanazawa-u.repo.nii.ac.jp:00017179","sets":["1132:1137:1270:1325"]},"author_link":["30859"],"item_7_biblio_info_8":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2002-02-01","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"1","bibliographicPageEnd":"73","bibliographicPageStart":"66","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":"2002211576","subitem_description_type":"Other"}]},"item_7_description_21":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"アラジール症候群(AGS)家系におけるjaggeld 1遺伝子の解析と臨床病型を検討した.AGS家系の発端者に,これまで報告されていない変異2556insGTGCを見出した.同変異によって,早期終始コドンが生成され,疾患起因性と考えられた.同一の変異は,発端者の母親と兄にも認められた.同一変異を有していても,発端者,母親,兄の臨床病型は著しく異なっていた.本家系では,比較的頻度が低いと考えられている腎病変が顕著であった","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":"佐藤, 広隆"}],"nameIdentifiers":[{"nameIdentifier":"30859","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-sato.pdf","filesize":[{"value":"1.4 MB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"C0000002237-009-sato.pdf","url":"https://kanazawa-u.repo.nii.ac.jp/record/17179/files/C0000002237-009-sato.pdf"},"version_id":"0395ab79-9575-4ec5-abcd-419f8fde2b8d"}]},"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":"優性遺伝子","subitem_subject_scheme":"Other"},{"subitem_subject":"隔離症","subitem_subject_scheme":"Other"},{"subitem_subject":"肝硬変-胆汁性","subitem_subject_scheme":"Other"},{"subitem_subject":"腎臓疾患","subitem_subject_scheme":"Other"},{"subitem_subject":"膜蛋白質","subitem_subject_scheme":"Other"},{"subitem_subject":"Alagille症候群(病因,遺伝学)","subitem_subject_scheme":"Other"},{"subitem_subject":"顔貌","subitem_subject_scheme":"Other"},{"subitem_subject":"フレームシフト変異","subitem_subject_scheme":"Other"},{"subitem_subject":"Notch1 ReceptorHaploinsufficiency","subitem_subject_scheme":"Other"},{"subitem_subject":"Jagged1 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":"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":"アラジール症候群の家系のjagged1遺伝子異常の同定と臨床病型の検討","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"アラジール症候群の家系のjagged1遺伝子異常の同定と臨床病型の検討"}]},"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":"17179","relation_version_is_last":true,"title":["アラジール症候群の家系のjagged1遺伝子異常の同定と臨床病型の検討"],"weko_creator_id":"3","weko_shared_id":-1},"updated":"2023-07-28T00:07:00.860683+00:00"}