{"created":"2023-05-15T09:03:48.899467+00:00","id":8163,"links":{},"metadata":{"_buckets":{"deposit":"8affd471-d7a6-4ffe-93cc-a81a0248ce5e"},"_deposit":{"created_by":15,"id":"8163","owners":[15],"pid":{"revision_id":0,"type":"depid","value":"8163"},"status":"published"},"_oai":{"id":"oai:sapmed.repo.nii.ac.jp:00008163","sets":["1674:1677:1678"]},"author_link":["6784","6785","6786","6787","6788","6789","6790","6791"],"item_2_alternative_title_18":{"attribute_name":"その他のタイトル","attribute_value_mlt":[{"subitem_alternative_title":"Genetic Diagnosis for 21-Hydroxylase Deficiency by Convenient Gene Analysis - Diagnosis of the CYP21B Gene in Thai and Peruvian Patients -"}]},"item_2_biblio_info_6":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2000","bibliographicIssueDateType":"Issued"},"bibliographicPageEnd":"45","bibliographicPageStart":"38","bibliographicVolumeNumber":"27","bibliographic_titles":[{"bibliographic_title":"札幌市衛生研究所年報 = Annual Report of Sapporo City Institute of Public Health"}]}]},"item_2_description_4":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"21-水酸化酵素欠損症と診断されたタイ人患者27家系とペルー人患者30家系について、PCR法をベースとした簡易遺伝子解析法による遺伝子診断を行った。その結果、タイの21家系（77.8%）、ペルーの21家系（70%）で病因alleleが同定された。それぞれ19家系（70.4%）と15家系（50%）で遺伝子型が確定し，ほとんどの例で遺伝子型と病型はよく一致していた。変異の特徴として，タイは同定された40allele中でnt656G変異が24（60%）、ペルーでは36allele中でdeletionまたはconversionが17（47.2%）と高頻度を示した。両国の患者の変異パターンは異なり，報告されている他の人種とも異なることから、CYP21B遺伝子の起源と進化過程は人種間で大きく異なることが確認された。","subitem_description_type":"Abstract"}]},"item_2_publisher_32":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"札幌市衛生研究所"}]},"item_2_source_id_7":{"attribute_name":"ISSN","attribute_value_mlt":[{"subitem_source_identifier":"0917-0294","subitem_source_identifier_type":"ISSN"}]},"item_2_version_type_15":{"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":"三上, 篤"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"多川, 真澄"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"水嶋, 好清"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"佐藤, 勇次"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"藤田, 晃三"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"福士, 勝"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"田島, 敏広"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"藤枝, 憲二"}],"nameIdentifiers":[{}]}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2018-07-21"}],"displaytype":"detail","filename":"n091702942738.pdf","filesize":[{"value":"415.9 kB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"n091702942738.pdf","url":"https://sapmed.repo.nii.ac.jp/record/8163/files/n091702942738.pdf"},"version_id":"a2525110-0686-4d8c-b808-a26e0a8092d0"}]},"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":"journal article","resourceuri":"http://purl.org/coar/resource_type/c_6501"}]},"item_title":"簡易遺伝子解析法を用いた21-水酸化酵素欠損症の遺伝子診断 : タイとペルーの患者におけるCYP21B遺伝子の解析","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"簡易遺伝子解析法を用いた21-水酸化酵素欠損症の遺伝子診断 : タイとペルーの患者におけるCYP21B遺伝子の解析","subitem_title_language":"ja"}]},"item_type_id":"2","owner":"15","path":["1678"],"pubdate":{"attribute_name":"PubDate","attribute_value":"2009-03-24"},"publish_date":"2009-03-24","publish_status":"0","recid":"8163","relation_version_is_last":true,"title":["簡易遺伝子解析法を用いた21-水酸化酵素欠損症の遺伝子診断 : タイとペルーの患者におけるCYP21B遺伝子の解析"],"weko_creator_id":"15","weko_shared_id":-1},"updated":"2023-12-13T04:41:53.445046+00:00"}