WEKO3
アイテム
{"_buckets": {"deposit": "7d6e3143-fe5d-4bcf-a118-f1bf0df14e8b"}, "_deposit": {"created_by": 2, "id": "16704", "owners": [2], "pid": {"revision_id": 0, "type": "depid", "value": "16704"}, "status": "published"}, "_oai": {"id": "oai:nagasaki-u.repo.nii.ac.jp:00016704", "sets": ["30"]}, "author_link": ["64330", "64323", "64321", "64325", "64328", "64324", "64319", "64322", "64320", "64329", "64331", "64326", "64327"], "item_2_biblio_info_6": {"attribute_name": "書誌情報", "attribute_value_mlt": [{"bibliographicIssueDates": {"bibliographicIssueDate": "2009-08", "bibliographicIssueDateType": "Issued"}, "bibliographicIssueNumber": "15", "bibliographicPageEnd": "1331", "bibliographicPageStart": "1327", "bibliographicVolumeNumber": "48", "bibliographic_titles": [{"bibliographic_title": "Internal Medicine"}]}]}, "item_2_description_4": {"attribute_name": "抄録", "attribute_value_mlt": [{"subitem_description": "Cystic fibrosis (CF), the most common lethal hereditary disorder in Caucasians, is quite rare in Southeast Asia including Japan. Here, we report three CF cases encountered in Nagasaki, Japan. Case 1; a 24-year-old man with dyspnea and cough was diagnosed as CF with a missense mutation Q98R in exon 4 and a polymorphic 125C in exon 1 in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Case 2; a 13-year-old woman born of consanguineous parents was diagnosed as CF with homozygous Q98R mutations in exon 4. Case 3; a 29-year-old woman complaining of cough and sputum was diagnosed as CF with a heterozygous R347H mutation in exon 7 and a polymorphic 125C in exon 1. These mutations have been previously reported in Caucasian patients, but are considered very rare. Although the numbers of individuals with CF are very limited, the profiles of CFTR mutations in those patients are likely diverse in Japan.", "subitem_description_type": "Abstract"}]}, "item_2_description_63": {"attribute_name": "引用", "attribute_value_mlt": [{"subitem_description": "Internal Medicine, vol.48(15), pp.1327-1331; 2009", "subitem_description_type": "Other"}]}, "item_2_publisher_33": {"attribute_name": "出版者", "attribute_value_mlt": [{"subitem_publisher": "日本内科学会"}]}, "item_2_relation_12": {"attribute_name": "DOI", "attribute_value_mlt": [{"subitem_relation_type": "isIdenticalTo", "subitem_relation_type_id": {"subitem_relation_type_id_text": "10.2169/internalmedicine.48.2078", "subitem_relation_type_select": "DOI"}}]}, "item_2_rights_13": {"attribute_name": "権利", "attribute_value_mlt": [{"subitem_rights": "Copyright (c) 2009 (社)日本内科学会"}]}, "item_2_source_id_7": {"attribute_name": "ISSN", "attribute_value_mlt": [{"subitem_source_identifier": "09182918", "subitem_source_identifier_type": "ISSN"}]}, "item_2_text_62": {"attribute_name": "出版者別言語", "attribute_value_mlt": [{"subitem_text_value": "The Japanese Society of Internal Medicine"}]}, "item_2_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": "Izumikawa, Koichi"}], "nameIdentifiers": [{"nameIdentifier": "64319", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Tomiyama, Yumiko"}], "nameIdentifiers": [{"nameIdentifier": "64320", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Ishimoto, Hiroshi"}], "nameIdentifiers": [{"nameIdentifier": "64321", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Sakamoto, Noriho"}], "nameIdentifiers": [{"nameIdentifier": "64322", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Imamura, Yoshifumi"}], "nameIdentifiers": [{"nameIdentifier": "64323", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Seki, Masafumi"}], "nameIdentifiers": [{"nameIdentifier": "64324", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Sawai, Toyomitsu"}], "nameIdentifiers": [{"nameIdentifier": "64325", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Kakeya, Hiroshi"}], "nameIdentifiers": [{"nameIdentifier": "64326", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Yamamoto, Yoshihiro"}], "nameIdentifiers": [{"nameIdentifier": "64327", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Yanagihara, Katsunori"}], "nameIdentifiers": [{"nameIdentifier": "64328", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Mukae, Hiroshi"}], "nameIdentifiers": [{"nameIdentifier": "64329", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Yoshimura, Kunihiko"}], "nameIdentifiers": [{"nameIdentifier": "64330", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Kohno, Shigeru"}], "nameIdentifiers": [{"nameIdentifier": "64331", "nameIdentifierScheme": "WEKO"}]}]}, "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", "download_preview_message": "", "file_order": 0, "filename": "IM_48_15_1327.pdf", "filesize": [{"value": "436.8 kB"}], "format": "application/pdf", "future_date_message": "", "is_thumbnail": false, "licensetype": "license_free", "mimetype": "application/pdf", "size": 436800.0, "url": {"label": "IM_48_15_1327.pdf", "url": "https://nagasaki-u.repo.nii.ac.jp/record/16704/files/IM_48_15_1327.pdf"}, "version_id": "7a6efbbd-4482-4402-9a40-5a412aea5e16"}]}, "item_keyword": {"attribute_name": "キーワード", "attribute_value_mlt": [{"subitem_subject": "cystic fibrosis", "subitem_subject_scheme": "Other"}, {"subitem_subject": "mutation", "subitem_subject_scheme": "Other"}, {"subitem_subject": "CFTR", "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": "journal article", "resourceuri": "http://purl.org/coar/resource_type/c_6501"}]}, "item_title": "Unique Mutations of the Cystic Fibrosis Transmembrane Conductance Regulator Gene of Three Cases of Cystic Fibrosis in Nagasaki, Japan", "item_titles": {"attribute_name": "タイトル", "attribute_value_mlt": [{"subitem_title": "Unique Mutations of the Cystic Fibrosis Transmembrane Conductance Regulator Gene of Three Cases of Cystic Fibrosis in Nagasaki, Japan"}]}, "item_type_id": "2", "owner": "2", "path": ["30"], "permalink_uri": "http://hdl.handle.net/10069/22587", "pubdate": {"attribute_name": "公開日", "attribute_value": "2009-12-04"}, "publish_date": "2009-12-04", "publish_status": "0", "recid": "16704", "relation": {}, "relation_version_is_last": true, "title": ["Unique Mutations of the Cystic Fibrosis Transmembrane Conductance Regulator Gene of Three Cases of Cystic Fibrosis in Nagasaki, Japan"], "weko_shared_id": 2}
Unique Mutations of the Cystic Fibrosis Transmembrane Conductance Regulator Gene of Three Cases of Cystic Fibrosis in Nagasaki, Japan
http://hdl.handle.net/10069/22587
http://hdl.handle.net/10069/22587baa740e9-5435-45ad-a686-e2fb901ccd81
名前 / ファイル | ライセンス | アクション |
---|---|---|
IM_48_15_1327.pdf (436.8 kB)
|
|
Item type | 学術雑誌論文 / Journal Article(1) | |||||
---|---|---|---|---|---|---|
公開日 | 2009-12-04 | |||||
タイトル | ||||||
タイトル | Unique Mutations of the Cystic Fibrosis Transmembrane Conductance Regulator Gene of Three Cases of Cystic Fibrosis in Nagasaki, Japan | |||||
言語 | ||||||
言語 | eng | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | cystic fibrosis | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | mutation | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | CFTR | |||||
資源タイプ | ||||||
資源タイプ識別子 | http://purl.org/coar/resource_type/c_6501 | |||||
資源タイプ | journal article | |||||
著者 |
Izumikawa, Koichi
× Izumikawa, Koichi× Tomiyama, Yumiko× Ishimoto, Hiroshi× Sakamoto, Noriho× Imamura, Yoshifumi× Seki, Masafumi× Sawai, Toyomitsu× Kakeya, Hiroshi× Yamamoto, Yoshihiro× Yanagihara, Katsunori× Mukae, Hiroshi× Yoshimura, Kunihiko× Kohno, Shigeru |
|||||
抄録 | ||||||
内容記述タイプ | Abstract | |||||
内容記述 | Cystic fibrosis (CF), the most common lethal hereditary disorder in Caucasians, is quite rare in Southeast Asia including Japan. Here, we report three CF cases encountered in Nagasaki, Japan. Case 1; a 24-year-old man with dyspnea and cough was diagnosed as CF with a missense mutation Q98R in exon 4 and a polymorphic 125C in exon 1 in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Case 2; a 13-year-old woman born of consanguineous parents was diagnosed as CF with homozygous Q98R mutations in exon 4. Case 3; a 29-year-old woman complaining of cough and sputum was diagnosed as CF with a heterozygous R347H mutation in exon 7 and a polymorphic 125C in exon 1. These mutations have been previously reported in Caucasian patients, but are considered very rare. Although the numbers of individuals with CF are very limited, the profiles of CFTR mutations in those patients are likely diverse in Japan. | |||||
書誌情報 |
Internal Medicine 巻 48, 号 15, p. 1327-1331, 発行日 2009-08 |
|||||
出版者 | ||||||
出版者 | 日本内科学会 | |||||
出版者別言語 | ||||||
The Japanese Society of Internal Medicine | ||||||
ISSN | ||||||
収録物識別子タイプ | ISSN | |||||
収録物識別子 | 09182918 | |||||
DOI | ||||||
関連タイプ | isIdenticalTo | |||||
識別子タイプ | DOI | |||||
関連識別子 | 10.2169/internalmedicine.48.2078 | |||||
権利 | ||||||
権利情報 | Copyright (c) 2009 (社)日本内科学会 | |||||
著者版フラグ | ||||||
出版タイプ | VoR | |||||
出版タイプResource | http://purl.org/coar/version/c_970fb48d4fbd8a85 | |||||
引用 | ||||||
内容記述タイプ | Other | |||||
内容記述 | Internal Medicine, vol.48(15), pp.1327-1331; 2009 |