{"created":"2023-05-15T09:03:48.963174+00:00","id":8164,"links":{},"metadata":{"_buckets":{"deposit":"7386f3a6-7445-48bc-a956-4db297be01be"},"_deposit":{"created_by":15,"id":"8164","owners":[15],"pid":{"revision_id":0,"type":"depid","value":"8164"},"status":"published"},"_oai":{"id":"oai:sapmed.repo.nii.ac.jp:00008164","sets":["1674:1677:1678"]},"author_link":["6792","6793","6794","6795","6796","6797","6798","6799","6800"],"item_2_alternative_title_18":{"attribute_name":"その他のタイトル","attribute_value_mlt":[{"subitem_alternative_title":"PCR/direct Sequencing for Mutation Screening of Responsible Gene in Japanese Patients with Wilson Disease"}]},"item_2_biblio_info_6":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2000","bibliographicIssueDateType":"Issued"},"bibliographicPageEnd":"51","bibliographicPageStart":"46","bibliographicVolumeNumber":"27","bibliographic_titles":[{"bibliographic_title":"札幌市衛生研究所年報 = Annual Report of Sapporo City Institute of Public Health"}]}]},"item_2_description_4":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"全国各地でウィルソン病のマススクリーニングがパイロットスタディとして実施されているが，発見例は臨床症状に乏しく病型診断が難しい。このことから，私たちは同病マススクリーニング発見例の確定診断法として，責任遺伝子ATP7Bを直接塩基配列解析する方法を検討してきた。これまでウィルソン病患者58家系を解析した結果，50家系において確定診断がなされ，本法の有用性が確認された。","subitem_description_type":"Abstract"}]},"item_2_publisher_32":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"札幌市衛生研究所"}]},"item_2_source_id_7":{"attribute_name":"ISSN","attribute_value_mlt":[{"subitem_source_identifier":"0917-0294","subitem_source_identifier_type":"ISSN"}]},"item_2_version_type_15":{"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":"野町, 祥介"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"田上, 泰子"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"水嶋, 好清"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"佐藤, 勇次"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"藤田, 晃三"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"福士, 勝"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"山口, 昭弘"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"窪田, 満"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"長坂, 博範"}],"nameIdentifiers":[{}]}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2018-07-21"}],"displaytype":"detail","filename":"n091702942746.pdf","filesize":[{"value":"124.6 kB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"n091702942746.pdf","url":"https://sapmed.repo.nii.ac.jp/record/8164/files/n091702942746.pdf"},"version_id":"e3ea8962-23ad-4ca3-9bb0-b4e6d6b8cf67"}]},"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":"ウィルソン病患者における責任遺伝子ATP7Bの解析","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"ウィルソン病患者における責任遺伝子ATP7Bの解析","subitem_title_language":"ja"}]},"item_type_id":"2","owner":"15","path":["1678"],"pubdate":{"attribute_name":"PubDate","attribute_value":"2009-03-24"},"publish_date":"2009-03-24","publish_status":"0","recid":"8164","relation_version_is_last":true,"title":["ウィルソン病患者における責任遺伝子ATP7Bの解析"],"weko_creator_id":"15","weko_shared_id":-1},"updated":"2023-12-13T04:41:53.254845+00:00"}