{"created":"2023-05-15T09:02:44.291095+00:00","id":3603,"links":{},"metadata":{"_buckets":{"deposit":"9720e5c6-6968-49b0-a481-0764e828c877"},"_deposit":{"created_by":3,"id":"3603","owners":[3],"pid":{"revision_id":0,"type":"depid","value":"3603"},"status":"published"},"_oai":{"id":"oai:hirosaki.repo.nii.ac.jp:00003603","sets":["557:561:641"]},"author_link":["11516","11163","11514","11570","11158","11564","11147","11563","11573","11519","11555","11513","11523","11166","11572","11525","11558","11526","11155","11561","11531","11517","11150","11557","11518","11524","11530"],"item_5_alternative_title_21":{"attribute_name":"その他のタイトル","attribute_value_mlt":[{"subitem_alternative_title":"優性栄養型表皮水疱症における臨床型と遺伝子型の関連"}]},"item_5_alternative_title_22":{"attribute_name":"タイトル（ヨミ）","attribute_value_mlt":[{"subitem_alternative_title":"ユウセイ エイヨウガタ ヒョウヒ スイホウショウ ニ オケル リンショウガタ ト イデンシガタ ノ カンレン"}]},"item_5_biblio_info_8":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2007-11-15","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"1","bibliographicPageEnd":"40","bibliographicPageStart":"33","bibliographicVolumeNumber":"59","bibliographic_titles":[{"bibliographic_title":"弘前医学"}]}]},"item_5_description_17":{"attribute_name":"フォーマット","attribute_value_mlt":[{"subitem_description":"application/pdf","subitem_description_type":"Other"}]},"item_5_description_5":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"Dystrophic epidermolysis bullosa (DEB) is a heritable mechanobullous skin disease derived frommutations in the type VII collagen gene (COL7A1). DEB cases are divided into dominant dystrophic EB (DDEB)and recessive dystrophic EB (RDEB). Most of the DDEB cases are induced by glycine substitution (GS) mutationbecause of its dominant negative effect, although there are silent GS which are not pathogenic without combinationof other mutation in COL7Al. To know the relations between clinical features and COL7A1 mutations, we examinedCOL7A1 gene mutation in two Japanese families with DEB. one is dominantly inherited and another is sporadic.We identified three mutations; 8068de117ins2 in case L G2395D/152de1G in case 2. Case 1 is DDEB, which does not resultfrom GS but from insertion/deletion mutation. In case 2, GS does not result in DDEB but causes recessive DEB (RDEB)with the combination of premature termination codon (PTC) in non-collagenous amino-terminal region (NC-l). Thisstudy demonstrates novel COL7A1 mutations for DEB and furthers our understanding of genotype-phenotype correlationdisplayed in DEB patients.","subitem_description_type":"Abstract"}]},"item_5_description_7":{"attribute_name":"引用","attribute_value_mlt":[{"subitem_description":"弘前医学. 59, 2007, p.33-40","subitem_description_type":"Other"}]},"item_5_full_name_2":{"attribute_name":"著者(ヨミ)","attribute_value_mlt":[{"nameIdentifiers":[{"nameIdentifier":"11561","nameIdentifierScheme":"WEKO"}],"names":[{"name":"マヤマ, マミコ"}]},{"nameIdentifiers":[{"nameIdentifier":"11519","nameIdentifierScheme":"WEKO"}],"names":[{"name":"タマイ, カツト"}]},{"nameIdentifiers":[{"nameIdentifier":"11563","nameIdentifierScheme":"WEKO"}],"names":[{"name":"フカイ, カズヨシ"}]},{"nameIdentifiers":[{"nameIdentifier":"11564","nameIdentifierScheme":"WEKO"}],"names":[{"name":"ナカガワ, トシフミ"}]},{"nameIdentifiers":[{"nameIdentifier":"11518","nameIdentifierScheme":"WEKO"}],"names":[{"name":"ハラダ, ケン"}]},{"nameIdentifiers":[{"nameIdentifier":"11163","nameIdentifierScheme":"WEKO"}],"names":[{"name":"ナカノ, ハジメ"}]},{"nameIdentifiers":[{"nameIdentifier":"11166","nameIdentifierScheme":"WEKO"}],"names":[{"name":"ハナダ, カツミ"}]},{"nameIdentifiers":[{"nameIdentifier":"11523","nameIdentifierScheme":"WEKO"}],"names":[{"name":"ハシモト, イサオ"}]},{"nameIdentifiers":[{"nameIdentifier":"11524","nameIdentifierScheme":"WEKO"}],"names":[{"name":"サワムラ, ダイスケ"}]}]},"item_5_full_name_3":{"attribute_name":"著者別名","attribute_value_mlt":[{"nameIdentifiers":[{"nameIdentifier":"11570","nameIdentifierScheme":"WEKO"}],"names":[{"name":"間山, 真美子"}]},{"nameIdentifiers":[{"nameIdentifier":"11526","nameIdentifierScheme":"WEKO"}],"names":[{"name":"玉井, 克人"}]},{"nameIdentifiers":[{"nameIdentifier":"11572","nameIdentifierScheme":"WEKO"}],"names":[{"name":"深井, 和吉"}]},{"nameIdentifiers":[{"nameIdentifier":"11573","nameIdentifierScheme":"WEKO"}],"names":[{"name":"中川, 俊文"}]},{"nameIdentifiers":[{"nameIdentifier":"11525","nameIdentifierScheme":"WEKO"}],"names":[{"name":"原田, 研"}]},{"nameIdentifiers":[{"nameIdentifier":"11155","nameIdentifierScheme":"WEKO"}],"names":[{"name":"中野, 創"}]},{"nameIdentifiers":[{"nameIdentifier":"11158","nameIdentifierScheme":"WEKO"}],"names":[{"name":"花田, 勝美"}]},{"nameIdentifiers":[{"nameIdentifier":"11530","nameIdentifierScheme":"WEKO"}],"names":[{"name":"橋本, 功"}]},{"nameIdentifiers":[{"nameIdentifier":"11531","nameIdentifierScheme":"WEKO"},{"nameIdentifier":"268","nameIdentifierScheme":"研究者総覧","nameIdentifierURI":"http://hue2.jm.hirosaki-u.ac.jp/html/268_ja.html"}],"names":[{"name":"澤村, 大輔"}]}]},"item_5_publisher_35":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"弘前大学大学院医学研究科・弘前医学会"}]},"item_5_radio_42":{"attribute_name":"資源タイプ","attribute_value_mlt":[{"subitem_radio_item":"Article"}]},"item_5_source_id_11":{"attribute_name":"書誌レコードID","attribute_value_mlt":[{"subitem_source_identifier":"AN00211444","subitem_source_identifier_type":"NCID"}]},"item_5_source_id_9":{"attribute_name":"ISSN","attribute_value_mlt":[{"subitem_source_identifier":"0439-1713","subitem_source_identifier_type":"ISSN"}]},"item_5_subject_19":{"attribute_name":"日本十進分類法","attribute_value_mlt":[{"subitem_subject":"494.8","subitem_subject_scheme":"NDC"}]},"item_5_subject_23":{"attribute_name":"NIIサブジェクト","attribute_value_mlt":[{"subitem_subject":"外科系臨床医学","subitem_subject_scheme":"Other"}]},"item_5_text_4":{"attribute_name":"著者所属","attribute_value_mlt":[{"subitem_text_value":"Department of Dermatology, Hirosaki University Graduate School of Medicine"},{"subitem_text_value":"Department of Dermatology, Hirosaki University Graduate School of Medicine"},{"subitem_text_value":"Osaka City University Graduate School of Medicine"},{"subitem_text_value":"Kagawa University Faculty of Medicine"},{"subitem_text_value":"Department of Dermatology, Hirosaki University Graduate"},{"subitem_text_value":"Department of Dermatology, Hirosaki University Graduate"},{"subitem_text_value":"Department of Dermatology, Hirosaki University Graduate"},{"subitem_text_value":"Department of Dermatology, Hirosaki University Graduate"},{"subitem_text_value":"Department of Dermatology, Hirosaki University Graduate"},{"subitem_text_value":"弘前大学大学院医学研究科皮膚科学分野"},{"subitem_text_value":"弘前大学大学院医学研究科皮膚科学分野"},{"subitem_text_value":"大阪市立大学大学院医学研究科皮膚科分野"},{"subitem_text_value":"香川医科大学医学部皮膚科学分野"},{"subitem_text_value":"弘前大学大学院医学研究科皮膚科学分野"},{"subitem_text_value":"弘前大学大学院医学研究科皮膚科学分野"},{"subitem_text_value":"弘前大学大学院医学研究科皮膚科学分野"},{"subitem_text_value":"弘前大学大学院医学研究科皮膚科学分野"},{"subitem_text_value":"弘前大学大学院医学研究科皮膚科学分野"}]},"item_5_version_type_18":{"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":"Mayama, Mamiko"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Tamai, Katsuto"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Fukai, Kazuyoshi"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Nakagawa, Toshifumi"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Harada, Ken"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Nakano, Hajime"}],"nameIdentifiers":[{},{}]},{"creatorNames":[{"creatorName":"Hanada, Katsumi"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Hashimoto, Isao"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Sawamura, Daisuke"}],"nameIdentifiers":[{},{}]}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2018-03-13"}],"displaytype":"detail","filename":"AN00211444_59_33.pdf","filesize":[{"value":"1.8 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mutations","subitem_subject_scheme":"Other"},{"subitem_subject":"栄養障害型表皮水疱症","subitem_subject_scheme":"Other"},{"subitem_subject":"VII型コラーゲン","subitem_subject_scheme":"Other"},{"subitem_subject":"グリシン置換","subitem_subject_scheme":"Other"},{"subitem_subject":"遺伝子変異","subitem_subject_scheme":"Other"}]},"item_language":{"attribute_name":"言語","attribute_value_mlt":[{"subitem_language":"eng"}]},"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":"Genotype and Phenotype Correlation of Dystrophic Epidermolysis Bullosa","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"Genotype and Phenotype Correlation of Dystrophic Epidermolysis Bullosa"}]},"item_type_id":"5","owner":"3","path":["641"],"pubdate":{"attribute_name":"公開日","attribute_value":"2008-07-27"},"publish_date":"2008-07-27","publish_status":"0","recid":"3603","relation_version_is_last":true,"title":["Genotype and Phenotype Correlation of Dystrophic Epidermolysis Bullosa"],"weko_creator_id":"3","weko_shared_id":3},"updated":"2023-05-15T09:59:50.314540+00:00"}