{"_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": ["1642838338003", "1642838407795"]}, "author_link": [], "item_1617186331708": {"attribute_name": "Title", "attribute_value_mlt": [{"subitem_1551255647225": "A novel nonsense SMC1A mutation in a patient with intractable epilepsy and cardiac malformation", "subitem_1551255648112": "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_1522299639480": "open access", "subitem_1600958577026": "http://purl.org/coar/access_right/c_abf2"}]}, "item_1617186499011": {"attribute_name": "Rights", "attribute_value_mlt": [{"subitem_1522650717957": "en", "subitem_1522651041219": "Creative Commons Attribution 4.0"}, {"subitem_1522650717957": "en", "subitem_1522650727486": "https://creativecommons.org/licenses/by/4.0/", "subitem_1522651041219": "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": "\u8ad6\u6587", "subitem_description_type": "Other"}]}, "item_1617186643794": {"attribute_name": "Publisher", "attribute_value_mlt": [{"subitem_1522300295150": "en", "subitem_1522300316516": "Springer Nature"}]}, "item_1617186702042": {"attribute_name": "Language", "attribute_value_mlt": [{"subitem_1551255818386": "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_1522646500366": "ISSN", "subitem_1522646572813": "2054-345X"}]}, "item_1617186941041": {"attribute_name": "Source Title", "attribute_value_mlt": [{"subitem_1522650068558": "en", "subitem_1522650091861": "Human Genome Variation"}]}, "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_1522305645492": "VoR", "subitem_1600292170262": "http://purl.org/coar/version/c_970fb48d4fbd8a85"}]}, "item_1617353299429": {"attribute_name": "Relation", "attribute_value_mlt": [{"subitem_1522306287251": {"subitem_1522306382014": "DOI", "subitem_1522306436033": "https://doi.org/10.1038/s41439-019-0053-y"}}, {"subitem_1522306287251": {"subitem_1522306382014": "DOI", "subitem_1522306436033": "https://doi.org/10.1038/s41439-019-0053-y"}}]}, "item_1617605131499": {"attribute_name": "File", "attribute_type": "file", "attribute_value_mlt": [{"accessrole": "open_access", "download_preview_message": "", "file_order": 0, "filename": "s41439-019-0053-y.pdf", "future_date_message": "", "is_thumbnail": false, "mimetype": "", "size": 0, "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"], "permalink_uri": "http://hdl.handle.net/20.500.12000/45906", "pubdate": {"attribute_name": "PubDate", "attribute_value": "2020-05-27"}, "publish_date": "2020-05-27", "publish_status": "0", "recid": "2012389", "relation": {}, "relation_version_is_last": true, "title": ["A novel nonsense SMC1A mutation in a patient with intractable epilepsy and cardiac malformation"], "weko_shared_id": -1}