{"created":"2023-05-15T16:44:20.859851+00:00","id":20018,"links":{},"metadata":{"_buckets":{"deposit":"fe2bd9bf-f028-4e82-856e-e29401274710"},"_deposit":{"created_by":2,"id":"20018","owners":[2],"pid":{"revision_id":0,"type":"depid","value":"20018"},"status":"published"},"_oai":{"id":"oai:nagasaki-u.repo.nii.ac.jp:00020018","sets":["29:68:1343:1344"]},"author_link":["84227","84221","84224","84225","84228","84226","84223","84222"],"item_3_alternative_title_19":{"attribute_name":"その他のタイトル","attribute_value_mlt":[{"subitem_alternative_title":"A juvenile type acid maltase deficiency With R600C mutation in one allele"}]},"item_3_biblio_info_6":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2003-12","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"2","bibliographicPageEnd":"62","bibliographicPageStart":"59","bibliographicVolumeNumber":"16","bibliographic_titles":[{"bibliographic_title":"長崎大学医学部保健学科紀要"},{"bibliographic_title":"Bulletin of Nagasaki University School of Health Sciences","bibliographic_titleLang":"en"}]}]},"item_3_description_4":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"若年型糖原病Ⅱ型の1例で遺伝子解析を施行した.患者は母親由来alleleのみにR600C変異を有し,同時にその他に2種類の多型をもたらすアミノ酸置換変異を同じallele上に有していた.RT-PCR産物の制限酵素消化では他方の父親由来alleleの発現が少ない可能性が示唆された.今後,発現低下機構の解明が必要である.","subitem_description_type":"Abstract"}]},"item_3_description_64":{"attribute_name":"引用","attribute_value_mlt":[{"subitem_description":"長崎大学医学部保健学科紀要 = Bulletin of Nagasaki University School of Health Sciences. 2003, 16(2), p.59-62","subitem_description_type":"Other"}]},"item_3_full_name_3":{"attribute_name":"著者別名","attribute_value_mlt":[{"nameIdentifiers":[{"nameIdentifier":"84225","nameIdentifierScheme":"WEKO"}],"names":[{"name":"Matsumoto, Tadashi"}]},{"nameIdentifiers":[{"nameIdentifier":"84226","nameIdentifierScheme":"WEKO"}],"names":[{"name":"Shimizu, Takashi"}]},{"nameIdentifiers":[{"nameIdentifier":"84227","nameIdentifierScheme":"WEKO"}],"names":[{"name":"Doi, Tomomi"}]},{"nameIdentifiers":[{"nameIdentifier":"84228","nameIdentifierScheme":"WEKO"}],"names":[{"name":"Kondoh, Tatsuro"}]}]},"item_3_source_id_10":{"attribute_name":"書誌レコードID","attribute_value_mlt":[{"subitem_source_identifier":"AA11595980","subitem_source_identifier_type":"NCID"}]},"item_3_source_id_7":{"attribute_name":"ISSN","attribute_value_mlt":[{"subitem_source_identifier":"09160841","subitem_source_identifier_type":"ISSN"}]},"item_3_text_62":{"attribute_name":"sortkey","attribute_value_mlt":[{"subitem_text_value":"P00059-P00062"}]},"item_3_version_type_16":{"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":"松本, 正"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"清水, 貴士"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"土井, 知巳"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"近藤, 達郎"}],"nameIdentifiers":[{}]}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2020-12-23"}],"displaytype":"detail","filename":"igaku16_02_08_t.pdf","filesize":[{"value":"192.5 kB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"igaku16_02_08_t.pdf","url":"https://nagasaki-u.repo.nii.ac.jp/record/20018/files/igaku16_02_08_t.pdf"},"version_id":"9f3f20d0-b7f5-4888-b6f4-989048e4e0ed"}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"若年型糖原病Ⅱ型","subitem_subject_scheme":"Other"},{"subitem_subject":"変異","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":"一方のAlleleのみに変異を認めた若年型糖原病Ⅱ型(酸性α-glucosidase欠損症)の1例","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"一方のAlleleのみに変異を認めた若年型糖原病Ⅱ型(酸性α-glucosidase欠損症)の1例"}]},"item_type_id":"3","owner":"2","path":["1344"],"pubdate":{"attribute_name":"公開日","attribute_value":"2008-07-01"},"publish_date":"2008-07-01","publish_status":"0","recid":"20018","relation_version_is_last":true,"title":["一方のAlleleのみに変異を認めた若年型糖原病Ⅱ型(酸性α-glucosidase欠損症)の1例"],"weko_creator_id":"2","weko_shared_id":-1},"updated":"2023-05-16T02:53:25.903028+00:00"}