{"created":"2022-02-02T02:07:48.889262+00:00","id":2012389,"links":{},"metadata":{"_buckets":{"deposit":"03c83efa-059c-4542-b262-eb0862a80e3e"},"_deposit":{"id":"2012389","owners":[1],"pid":{"revision_id":0,"type":"depid","value":"2012389"},"status":"published"},"_oai":{"id":"oai:u-ryukyu.repo.nii.ac.jp:02012389","sets":["1642838163960:1642838338003","1642838403551:1642838407795"]},"author_link":[],"item_1617186331708":{"attribute_name":"Title","attribute_value_mlt":[{"subitem_title":"A novel nonsense SMC1A mutation in a patient with intractable epilepsy and cardiac malformation","subitem_title_language":"en"}]},"item_1617186419668":{"attribute_name":"Creator","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"Chinen, Yasutsugu","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"Nakamura, Sadao","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"Kaneshi, Takuya","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"Nakayashiro, Mami","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"Yanagi, Kumiko","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"Kaname, Tadashi","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"Naritomi, Kenji","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"Nakanishi, Koichi","creatorNameLang":"en"}]}]},"item_1617186476635":{"attribute_name":"Access Rights","attribute_value_mlt":[{"subitem_access_right":"open access","subitem_access_right_uri":"http://purl.org/coar/access_right/c_abf2"}]},"item_1617186499011":{"attribute_name":"Rights","attribute_value_mlt":[{"subitem_rights":"Creative Commons Attribution 4.0","subitem_rights_language":"en"},{"subitem_rights":"https://creativecommons.org/licenses/by/4.0/","subitem_rights_language":"en","subitem_rights_resource":"https://creativecommons.org/licenses/by/4.0/"}]},"item_1617186626617":{"attribute_name":"Description","attribute_value_mlt":[{"subitem_description":"Cornelia de Lange syndrome (CdLS) is a cohesinopathy caused by genetic variations. We present a female with SMC1A-associated CdLS with a novel SMC1A truncation mutation (p. Arg499Ter), transposition of the great arteries, and periodic intractable seizures from 40 months of age. A review of the literature revealed that a seizure-free period after birth of at least 15 months is required for these patients to be able to walk, irrespective of the epileptic course.","subitem_description_type":"Other"},{"subitem_description":"論文","subitem_description_type":"Other"}]},"item_1617186643794":{"attribute_name":"Publisher","attribute_value_mlt":[{"subitem_publisher":"Springer Nature","subitem_publisher_language":"en"}]},"item_1617186702042":{"attribute_name":"Language","attribute_value_mlt":[{"subitem_language":"eng"}]},"item_1617186783814":{"attribute_name":"Identifier","attribute_value_mlt":[{"subitem_identifier_type":"HDL","subitem_identifier_uri":"http://hdl.handle.net/20.500.12000/45906"}]},"item_1617186920753":{"attribute_name":"Source Identifier","attribute_value_mlt":[{"subitem_source_identifier":"2054-345X","subitem_source_identifier_type":"ISSN"}]},"item_1617186941041":{"attribute_name":"Source Title","attribute_value_mlt":[{"subitem_source_title":"Human Genome Variation","subitem_source_title_language":"en"}]},"item_1617187056579":{"attribute_name":"Bibliographic Information","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2019-05-13","bibliographicIssueDateType":"Issued"},"bibliographicVolumeNumber":"6"}]},"item_1617258105262":{"attribute_name":"Resource Type","attribute_value_mlt":[{"resourcetype":"journal article","resourceuri":"http://purl.org/coar/resource_type/c_6501"}]},"item_1617265215918":{"attribute_name":"Version Type","attribute_value_mlt":[{"subitem_version_resource":"http://purl.org/coar/version/c_970fb48d4fbd8a85","subitem_version_type":"VoR"}]},"item_1617353299429":{"attribute_name":"Relation","attribute_value_mlt":[{"subitem_relation_type_id":{"subitem_relation_type_id_text":"https://doi.org/10.1038/s41439-019-0053-y","subitem_relation_type_select":"DOI"}},{"subitem_relation_type_id":{"subitem_relation_type_id_text":"https://doi.org/10.1038/s41439-019-0053-y","subitem_relation_type_select":"DOI"}}]},"item_1617605131499":{"attribute_name":"File","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_access","filename":"s41439-019-0053-y.pdf","mimetype":"application/pdf","url":{"objectType":"fulltext","url":"https://u-ryukyu.repo.nii.ac.jp/record/2012389/files/s41439-019-0053-y.pdf"},"version_id":"1f8bd639-249d-48f1-8314-94905eb8d9e6"}]},"item_title":"A novel nonsense SMC1A mutation in a patient with intractable epilepsy and cardiac malformation","item_type_id":"15","owner":"1","path":["1642838338003","1642838407795"],"pubdate":{"attribute_name":"PubDate","attribute_value":"2020-05-27"},"publish_date":"2020-05-27","publish_status":"0","recid":"2012389","relation_version_is_last":true,"title":["A novel nonsense SMC1A mutation in a patient with intractable epilepsy and cardiac malformation"],"weko_creator_id":"1","weko_shared_id":-1},"updated":"2023-08-03T05:31:18.715126+00:00"}