{"created":"2022-02-22T04:16:44.876467+00:00","id":2016197,"links":{},"metadata":{"_buckets":{"deposit":"64915cb2-faf0-4165-b33a-0dd57fc40d2f"},"_deposit":{"id":"2016197","owners":[1],"pid":{"revision_id":0,"type":"depid","value":"2016197"},"status":"published"},"_oai":{"id":"oai:u-ryukyu.repo.nii.ac.jp:02016197","sets":["1642838163960:1642838198944:1642838199408:1642838220713","1642838403551:1642838412624"]},"author_link":[],"item_1617186331708":{"attribute_name":"Title","attribute_value_mlt":[{"subitem_1551255647225":"［原著］Two novel mutations of the FGDl gene in Japanese patients with Aarskog Scott syndrome","subitem_1551255648112":"ja"}]},"item_1617186419668":{"attribute_name":"Creator","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"Yanagi, Kumiko","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"Kaname, Tadashi","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"Chinen, Yasutsugu","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"Naritomi, Kenji","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":"ja","subitem_1522651041219":"琉球医学会"}]},"item_1617186609386":{"attribute_name":"Subject","attribute_value_mlt":[{"subitem_1522299896455":"en","subitem_1522300014469":"Other","subitem_1523261968819":"Aarskog-Scott syndrome"},{"subitem_1522299896455":"en","subitem_1522300014469":"Other","subitem_1523261968819":"Faciogenital dysplasia 1 (FGD1) gene"},{"subitem_1522299896455":"en","subitem_1522300014469":"Other","subitem_1523261968819":"novel mutations"},{"subitem_1522299896455":"en","subitem_1522300014469":"Other","subitem_1523261968819":"allele-specific PCR"},{"subitem_1522299896455":"en","subitem_1522300014469":"Other","subitem_1523261968819":"PCR-RFLP"}]},"item_1617186626617":{"attribute_name":"Description","attribute_value_mlt":[{"subitem_description":"Faciogenital dysplasia 1 (FGD1) gene has been identified as a responsible gene for Aarskog-Scott syndrome (AAS). We characterized two novel point mutations in two Japanese families with AAS, a missense mutation in exon 11 (1906C>T, R636W) and a nucleotide transition at the first position of the 5' splice donor site of intron 14 (IVS14+1G>A). The missense mutation probably results in reduced FGD1 function and the mutation at the splice donor site decreases FGDl gene expression. These mutations were identified by sequencing and were confirmed by allele-specific polymerase chain reaction (AS-PCR) or by PCR-restriction fragment length polymorphism (PCR-RFLP). The mutations were absent in twenty-five Japanese control subjects, which supports the notion that these mutations result in AAS. This study represents the first mutational analysis of FGD1 in Japanese AAS patients.","subitem_description_type":"Other"},{"subitem_description":"論文","subitem_description_type":"Other"}]},"item_1617186643794":{"attribute_name":"Publisher","attribute_value_mlt":[{"subitem_1522300295150":"ja","subitem_1522300316516":"琉球医学会"},{"subitem_1522300295150":"en","subitem_1522300316516":"Ryukyu Medical Association"}]},"item_1617186702042":{"attribute_name":"Language","attribute_value_mlt":[{"subitem_1551255818386":"eng"}]},"item_1617186920753":{"attribute_name":"Source Identifier","attribute_value_mlt":[{"subitem_1522646500366":"ISSN","subitem_1522646572813":"1346888X"},{"subitem_1522646500366":"ISSN","subitem_1522646572813":"0289-1530"},{"subitem_1522646500366":"NCID","subitem_1522646572813":"AN10369445"}]},"item_1617186941041":{"attribute_name":"Source Title","attribute_value_mlt":[{"subitem_1522650068558":"ja","subitem_1522650091861":"琉球医学会誌 = Ryukyu Medical Journal"}]},"item_1617187056579":{"attribute_name":"Bibliographic Information","attribute_value_mlt":[{"bibliographicIssueNumber":"4","bibliographicPageEnd":"148","bibliographicPageStart":"143","bibliographicVolumeNumber":"23"}]},"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_1617605131499":{"attribute_name":"File","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_access","filename":"v23p143.pdf","mimetype":"application/pdf","url":{"objectType":"fulltext","url":"https://u-ryukyu.repo.nii.ac.jp/record/2016197/files/v23p143.pdf"},"version_id":"a7f01512-e88c-4a15-9fc6-095df966a0e8"}]},"item_title":"［原著］Two novel mutations of the FGDl gene in Japanese patients with Aarskog Scott syndrome","item_type_id":"15","owner":"1","path":["1642838220713","1642838412624"],"pubdate":{"attribute_name":"PubDate","attribute_value":"2010-07-02"},"publish_date":"2010-07-02","publish_status":"0","recid":"2016197","relation_version_is_last":true,"title":["［原著］Two novel mutations of the FGDl gene in Japanese patients with Aarskog Scott syndrome"],"weko_creator_id":"1","weko_shared_id":-1},"updated":"2022-02-22T04:16:48.016180+00:00"}