{"created":"2023-06-19T08:45:46.855790+00:00","id":1155,"links":{},"metadata":{"_buckets":{"deposit":"19f6acfc-308b-4f39-8d6c-65a31e48e14b"},"_deposit":{"created_by":25,"id":"1155","owners":[25],"pid":{"revision_id":0,"type":"depid","value":"1155"},"status":"published"},"_oai":{"id":"oai:ycu.repo.nii.ac.jp:00001155","sets":["4:71:228:231"]},"author_link":["2544"],"item_10002_biblio_info_7":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2017-03-30","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"4","bibliographicPageEnd":"589","bibliographicPageStart":"585","bibliographicVolumeNumber":"67","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":"₂₀₀₅年以降，次世代シークエンサー（Next Generation Sequencer，NGS）が順次市場に登場し，主にメンデル遺伝性疾患（単一遺伝子疾患）の責任遺伝子が次々と同定されている．特に，NGSを利用した全エクソーム解析（Whole Exome Sequencing，WES）により，様々なメンデル遺伝性疾患の解明が，その周辺技術の開発とも相まって，現在も精力的に行われている．本総説では，筆者が携わった遺伝性難治疾患のうち，原因不明なメンデル遺伝性疾患のWESを用いた責任遺伝子の同定，および病態解明の自験例（Coffin-Siris 症候群，脊髄性筋萎縮症，習慣性流産）を紹介する．","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":"鶴﨑, 美徳"},{"creatorName":"ツルサキ, ヨシノリ","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":"2017-05-16"}],"displaytype":"detail","filename":"07_Tsurusaki.pdf","filesize":[{"value":"836.1 kB"}],"format":"application/pdf","licensetype":"license_11","mimetype":"application/pdf","url":{"label":"横浜医学67巻4号","url":"https://ycu.repo.nii.ac.jp/record/1155/files/07_Tsurusaki.pdf"},"version_id":"7a137411-73e8-497d-844c-36092e9704d4"}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"メンデル遺伝性疾患","subitem_subject_scheme":"Other"},{"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":"責任遺伝子","subitem_subject_scheme":"Other"},{"subitem_subject":"Mendelian disorders","subitem_subject_language":"en","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":"Disease genes","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":"次世代シークエンサーを用いた遺伝性難治疾患の責任遺伝子の同定および病態解明","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"次世代シークエンサーを用いた遺伝性難治疾患の責任遺伝子の同定および病態解明"},{"subitem_title":"Identification of genes that cause mendelian disorders using next-generation sequencer and pathological clarification","subitem_title_language":"en"}]},"item_type_id":"10002","owner":"25","path":["231"],"pubdate":{"attribute_name":"公開日","attribute_value":"2017-05-16"},"publish_date":"2017-05-16","publish_status":"0","recid":"1155","relation_version_is_last":true,"title":["次世代シークエンサーを用いた遺伝性難治疾患の責任遺伝子の同定および病態解明"],"weko_creator_id":"25","weko_shared_id":-1},"updated":"2023-06-19T09:51:20.294955+00:00"}