{"created":"2023-06-19T11:21:47.428624+00:00","id":2045,"links":{},"metadata":{"_buckets":{"deposit":"837e4424-8aa2-456d-ac45-b081e6bbbea2"},"_deposit":{"created_by":3,"id":"2045","owners":[3],"pid":{"revision_id":0,"type":"depid","value":"2045"},"status":"published"},"_oai":{"id":"oai:asahikawa-med.repo.nii.ac.jp:00002045","sets":["7","7:23"]},"author_link":["6086"],"item_5_biblio_info_21":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2004-07-01","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"2","bibliographicPageEnd":"186","bibliographicPageStart":"180","bibliographicVolumeNumber":"1","bibliographic_titles":[{"bibliographic_title":"Adiposcience"}]}]},"item_5_description_33":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"先天性全身性lipodystrophyの責任遺伝子として染色体9q34領域からBSCL1(AGPAT2)遺伝子が,11q13領域からBSCL2(Seipin)遺伝子が単離され,患者から種々の遺伝子変異が同定されている.一方,家族性部分性lipodystrophyではLamin遺伝子が責任遺伝子として同定されている.本症は異質性に富むことから,今後多くの責任遺伝子が同定されてくることが期待される.本症の一部にその責任遺伝子が同定されたことから,遺伝子解析は確定診断,キャリヤー診断,更には出生前診断に応用されている.また分子病態の理解に役立っている","subitem_description_language":"ja","subitem_description_type":"Abstract"}]},"item_5_description_36":{"attribute_name":"注記","attribute_value_mlt":[{"subitem_description":"雑誌掲載版","subitem_description_language":"ja","subitem_description_type":"Other"}]},"item_5_description_37":{"attribute_name":"資源タイプ","attribute_value_mlt":[{"subitem_description":"text","subitem_description_type":"Other"}]},"item_5_description_41":{"attribute_name":"フォーマット","attribute_value_mlt":[{"subitem_description":"application/pdf","subitem_description_type":"Other"}]},"item_5_source_id_22":{"attribute_name":"ISSN","attribute_value_mlt":[{"subitem_source_identifier":"1349-1318","subitem_source_identifier_type":"ISSN"}]},"item_5_text_44":{"attribute_name":"ID(XooNIps)","attribute_value_mlt":[{"subitem_text_value":"2005076145"}]},"item_5_text_54":{"attribute_name":"閲覧数(XooNIps)","attribute_value_mlt":[{"subitem_text_value":"1931"}]},"item_5_text_55":{"attribute_name":"ダウンロード数(XooNIps)","attribute_value_mlt":[{"subitem_text_value":"810"}]},"item_5_text_7":{"attribute_name":"著者 ローマ字","attribute_value_mlt":[{"subitem_text_value":"Fujieda, Kenji"},{"subitem_text_language":"en"}]},"item_5_version_type_38":{"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":"藤枝, 憲二","creatorNameLang":"ja"},{"creatorName":"フジエダ, ケンジ","creatorNameLang":"ja-Kana"}],"nameIdentifiers":[{"nameIdentifier":"6086","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":"2021-07-06"}],"displaytype":"detail","filename":"2809.pdf","filesize":[{"value":"2.4 MB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"2809.pdf","url":"https://asahikawa-med.repo.nii.ac.jp/record/2045/files/2809.pdf"},"version_id":"f68b7d49-87b4-43a1-9b18-e55768f001af"}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"先天性全身性lipodystrophy","subitem_subject_language":"ja","subitem_subject_scheme":"Other"},{"subitem_subject":"Berardinelli-Seip症候群","subitem_subject_language":"ja","subitem_subject_scheme":"Other"},{"subitem_subject":"Dunnigan型家族性部分性lipodystrophy","subitem_subject_language":"ja","subitem_subject_scheme":"Other"},{"subitem_subject":"AGPAT2","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"BSCL2","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"LaminA/C","subitem_subject_language":"en","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":"journal article","resourceuri":"http://purl.org/coar/resource_type/c_6501"}]},"item_title":"【Lipodystrophyの病態と治療】 臨床 Lipodystrophyの遺伝子診断","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"【Lipodystrophyの病態と治療】 臨床 Lipodystrophyの遺伝子診断","subitem_title_language":"ja"}]},"item_type_id":"5","owner":"3","path":["7","23"],"pubdate":{"attribute_name":"PubDate","attribute_value":"2010-01-29"},"publish_date":"2010-01-29","publish_status":"0","recid":"2045","relation_version_is_last":true,"title":["【Lipodystrophyの病態と治療】 臨床 Lipodystrophyの遺伝子診断"],"weko_creator_id":"3","weko_shared_id":-1},"updated":"2024-04-25T08:03:12.905901+00:00"}