{"created":"2023-06-19T11:20:41.470093+00:00","id":756,"links":{},"metadata":{"_buckets":{"deposit":"a37e9be1-09c3-4c5f-9874-faeac8cc8e83"},"_deposit":{"created_by":3,"id":"756","owners":[3],"pid":{"revision_id":0,"type":"depid","value":"756"},"status":"published"},"_oai":{"id":"oai:asahikawa-med.repo.nii.ac.jp:00000756","sets":["7","7:23"]},"author_link":["2171","2172","2173","2174"],"item_5_biblio_info_21":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2004-10-01","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"10","bibliographicPageEnd":"979","bibliographicPageStart":"977","bibliographicVolumeNumber":"52","bibliographic_titles":[{"bibliographic_title":"ホルモンと臨床"}]}]},"item_5_description_33":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"ルポイド過形成症患児で,エクソン7のコドン258が終止コドンに変わる変異(Q258X)を持つ21例を対象とし,Q258X変異が創始者効果を持つか検討した.内訳は,Q258X変異のホモ接合体患児が10例で,Q258X変異との複合型ヘテロ接合体患児が11例である.正常コントロールには,正常人96例を用いた.3SNPsと3マイクロサテライトマーカー計6つのマーカーで構成されるハプロタイプは,Q258X変異を持つ患児の72.9%において共通でありQ258X変異の周辺50kbにおいて保存されていることが明らかになった.Q258X変異を持つハプロタイプTGC-311-323-313は,日本人集団において多いハプロタイプでないばかりか,正常96例では検出されない稀なハプロタイプであることが判明した.このことは,Q258X変異の共通祖先が,日本人集団由来ではなく,その他の地域から由来していることが示唆された","subitem_description_language":"ja","subitem_description_type":"Abstract"}]},"item_5_description_36":{"attribute_name":"注記","attribute_value_mlt":[{"subitem_description":"著者版","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":"0045-7167","subitem_source_identifier_type":"PISSN"}]},"item_5_text_44":{"attribute_name":"ID(XooNIps)","attribute_value_mlt":[{"subitem_text_value":"2005055031"}]},"item_5_text_54":{"attribute_name":"閲覧数(XooNIps)","attribute_value_mlt":[{"subitem_text_value":"1869"}]},"item_5_text_55":{"attribute_name":"ダウンロード数(XooNIps)","attribute_value_mlt":[{"subitem_text_value":"1349"}]},"item_5_text_7":{"attribute_name":"著者 ローマ字","attribute_value_mlt":[{"subitem_text_value":"Makita, Yoshio"},{"subitem_text_language":"en","subitem_text_value":"Okamoto, Toshio"},{"subitem_text_language":"en","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_ab4af688f83e57aa","subitem_version_type":"AM"}]},"item_creator":{"attribute_name":"著者","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"蒔田, 芳男","creatorNameLang":"ja"},{"creatorName":"マキタ, ヨシオ","creatorNameLang":"ja-Kana"}],"nameIdentifiers":[{"nameIdentifier":"2171","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"岡本, 年男","creatorNameLang":"ja"},{"creatorName":"オカモト, トシオ","creatorNameLang":"ja-Kana"}],"nameIdentifiers":[{"nameIdentifier":"2172","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"藤枝, 憲二","creatorNameLang":"ja"},{"creatorName":"フジエダ, ケンジ","creatorNameLang":"ja-Kana"}],"nameIdentifiers":[{"nameIdentifier":"2173","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"田島, 敏広","creatorNameLang":"ja"}],"nameIdentifiers":[{"nameIdentifier":"2174","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":"941.pdf","filesize":[{"value":"297.5 kB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"941.pdf","url":"https://asahikawa-med.repo.nii.ac.jp/record/756/files/941.pdf"},"version_id":"02d4c171-1eea-49cc-909f-a3f8585f6ed8"}]},"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":"【小児内分泌学の進歩2004】　日本人集団においてStAR遺伝子変異Q258Xに創始者効果が存在するか?","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"【小児内分泌学の進歩2004】　日本人集団においてStAR遺伝子変異Q258Xに創始者効果が存在するか?","subitem_title_language":"ja"}]},"item_type_id":"5","owner":"3","path":["6","7","23"],"pubdate":{"attribute_name":"PubDate","attribute_value":"2008-04-11"},"publish_date":"2008-04-11","publish_status":"0","recid":"756","relation_version_is_last":true,"title":["【小児内分泌学の進歩2004】　日本人集団においてStAR遺伝子変異Q258Xに創始者効果が存在するか?"],"weko_creator_id":"3","weko_shared_id":-1},"updated":"2024-07-16T09:25:44.100650+00:00"}