{"created":"2023-06-19T08:46:12.418837+00:00","id":1676,"links":{},"metadata":{"_buckets":{"deposit":"071e7b3a-a822-4df0-a5da-52720102ad30"},"_deposit":{"created_by":25,"id":"1676","owners":[25],"pid":{"revision_id":0,"type":"depid","value":"1676"},"status":"published"},"_oai":{"id":"oai:ycu.repo.nii.ac.jp:00001676","sets":["4:71:361:389"]},"author_link":["3176"],"item_10002_biblio_info_7":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2018-10-30","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"4","bibliographicPageEnd":"588","bibliographicPageStart":"583","bibliographicVolumeNumber":"69","bibliographic_titles":[{"bibliographic_title":"横浜医学"},{"bibliographic_title":"Yokohama Medical Journal","bibliographic_titleLang":"en"}]}]},"item_10002_description_5":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"次世代シーケンサーの登場によって，ゲノム医学は長足の進歩を遂げ，疾患責任遺伝子の同定が加速した．遺伝性疾患を考えるとき，その遺伝学的モデルは，単一遺伝子疾患から，rare variant disease，あるいは多因子疾患まで幅広く，加えて疾患特異性を考慮する必要がある．本研究は，最新のゲノム技術を駆使し，様々な遺伝学的モデルを想定して神経筋疾患の遺伝学的解析を行ったものであるが，本稿では，もやもや病発症に関わるRNF213遺伝子のR4810K多型の臨床遺伝学的関連，およびネマリンミオパチーの2つの新規疾患責任遺伝子（KLHL40, MYPN）の同定について紹介する．","subitem_description_type":"Abstract"}]},"item_10002_publisher_8":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"横浜市立大学医学会"}]},"item_10002_source_id_9":{"attribute_name":"ISSN","attribute_value_mlt":[{"subitem_source_identifier":"0372-7726","subitem_source_identifier_type":"ISSN"}]},"item_creator":{"attribute_name":"著者","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"宮武, 聡子"},{"creatorName":"ミヤタケ, サトコ","creatorNameLang":"ja-Kana"}],"nameIdentifiers":[{}]}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2019-03-12"}],"displaytype":"detail","filename":"11_Miyatake.pdf","filesize":[{"value":"1.1 MB"}],"format":"application/pdf","licensetype":"license_11","mimetype":"application/pdf","url":{"label":"横浜医学69巻4号（宮武　聡子）","url":"https://ycu.repo.nii.ac.jp/record/1676/files/11_Miyatake.pdf"},"version_id":"9b1ca248-20c3-4de0-b67d-61f6f6b1d31d"}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"次世代シークエンサー","subitem_subject_scheme":"Other"},{"subitem_subject":"全エクソーム解析","subitem_subject_scheme":"Other"},{"subitem_subject":"もやもや病","subitem_subject_scheme":"Other"},{"subitem_subject":"ネマリンミオパチー","subitem_subject_scheme":"Other"},{"subitem_subject":"next generation sequencer","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"whole exome sequencing","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"moyamoya disease","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"nemaline myopathy","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":"departmental bulletin paper","resourceuri":"http://purl.org/coar/resource_type/c_6501"}]},"item_title":"神経筋疾患（単一遺伝子疾患からrare variant diseaseまで）の遺伝学的解析","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"神経筋疾患（単一遺伝子疾患からrare variant diseaseまで）の遺伝学的解析"},{"subitem_title":"GENETIC ANALYSIS OF NEUROMUSCULAR DISEASES USING DIFFERENT GENETIC MODELS","subitem_title_language":"en"}]},"item_type_id":"10002","owner":"25","path":["389"],"pubdate":{"attribute_name":"公開日","attribute_value":"2019-03-12"},"publish_date":"2019-03-12","publish_status":"0","recid":"1676","relation_version_is_last":true,"title":["神経筋疾患（単一遺伝子疾患からrare variant diseaseまで）の遺伝学的解析"],"weko_creator_id":"25","weko_shared_id":-1},"updated":"2023-06-19T09:36:39.932874+00:00"}