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Novel deletion mutation in the glucokinase gene from a korean man with GCK-MODY phenotype and situs inversus
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| DC Field | Value | Language |
|---|---|---|
| dc.contributor.author | Cho, Yun Kyung | - |
| dc.contributor.author | Cho, Eun-Hee | - |
| dc.contributor.author | Choi, Hoon Sung | - |
| dc.contributor.author | Kim, Sang-Wook | - |
| dc.date.accessioned | 2024-07-02T01:31:01Z | - |
| dc.date.available | 2024-07-02T01:31:01Z | - |
| dc.date.issued | 2018-09 | - |
| dc.identifier.issn | 0168-8227 | - |
| dc.identifier.issn | 1872-8227 | - |
| dc.identifier.uri | https://scholarworks.bwise.kr/cau/handle/2019.sw.cau/74504 | - |
| dc.description.abstract | A novel mutation in intron 9-exon 10 boundary of the GCK gene was detected in a male patient with clinical features of GCK-MODY and situs inversus. This case highlights the value of sequencing the GCK gene in individuals with GCK-MODY phenotype and no family history of monogenic diabetes. (C) 2018 Elsevier B.V. All rights reserved. | - |
| dc.format.extent | 4 | - |
| dc.language | 영어 | - |
| dc.language.iso | ENG | - |
| dc.publisher | ELSEVIER IRELAND LTD | - |
| dc.title | Novel deletion mutation in the glucokinase gene from a korean man with GCK-MODY phenotype and situs inversus | - |
| dc.type | Article | - |
| dc.identifier.doi | 10.1016/j.diabres.2018.07.036 | - |
| dc.identifier.bibliographicCitation | DIABETES RESEARCH AND CLINICAL PRACTICE, v.143, pp 263 - 266 | - |
| dc.description.isOpenAccess | N | - |
| dc.identifier.wosid | 000445129900032 | - |
| dc.identifier.scopusid | 2-s2.0-85051005397 | - |
| dc.citation.endPage | 266 | - |
| dc.citation.startPage | 263 | - |
| dc.citation.title | DIABETES RESEARCH AND CLINICAL PRACTICE | - |
| dc.citation.volume | 143 | - |
| dc.type.docType | Article | - |
| dc.publisher.location | 아일랜드 | - |
| dc.subject.keywordAuthor | Glucokinase | - |
| dc.subject.keywordAuthor | Maturity-onset diabetes of the young | - |
| dc.subject.keywordAuthor | Situs inversus | - |
| dc.subject.keywordPlus | CLINICAL CHARACTERISTICS | - |
| dc.subject.keywordPlus | YOUNG | - |
| dc.relation.journalResearchArea | Endocrinology & Metabolism | - |
| dc.relation.journalWebOfScienceCategory | Endocrinology & Metabolism | - |
| dc.description.journalRegisteredClass | sci | - |
| dc.description.journalRegisteredClass | scie | - |
| dc.description.journalRegisteredClass | scopus | - |
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