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저신장 환아에서 발견한 TRAPPC2 유전자 돌연변이의 기능 검사를 통한 해석 1예 보고
DC Field | Value | Language |
---|---|---|
dc.contributor.author | 권아름 | - |
dc.contributor.author | 김수진 | - |
dc.contributor.author | 신새암 | - |
dc.contributor.author | 원동주 | - |
dc.contributor.author | 이승태 | - |
dc.contributor.author | 최종락 | - |
dc.date.accessioned | 2024-06-14T03:08:50Z | - |
dc.date.available | 2024-06-14T03:08:50Z | - |
dc.date.issued | 2024-01 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/199791 | - |
dc.description.abstract | Spondyloepiphyseal dysplasia tarda (SEDT) is a rare, X-chromosome-linked recessive osteochondrodysplasia caused by mutations in the TRAPPC2 gene. Molecular methods are helpful for diagnosis because short stature and degenerative joint diseases develop in late childhood. We report a case of interpreting the pathogenicity of TRAPPC2 gene mutation, which includes intronic region deletion, using a functional study. The conflicting results of mRNA sequencing and the automated program predicting splice mutations emphasize the importance of functional studies. | - |
dc.description.statementOfResponsibility | open | - |
dc.language | Korean | - |
dc.publisher | Korean Society for Laboratory Medicine | - |
dc.relation.isPartOf | Laboratory Medicine Online | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.title | 저신장 환아에서 발견한 TRAPPC2 유전자 돌연변이의 기능 검사를 통한 해석 1예 보고 | - |
dc.title.alternative | Interpretation of the TRAPPC2 Mutation Found in a Child with Short Stature Using a Functional Study: A Case Report | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Pediatrics (소아과학교실) | - |
dc.contributor.googleauthor | 이소진 | - |
dc.contributor.googleauthor | 김수진 | - |
dc.contributor.googleauthor | 원동주 | - |
dc.contributor.googleauthor | 신새암 | - |
dc.contributor.googleauthor | 권아름 | - |
dc.contributor.googleauthor | 이승태 | - |
dc.contributor.googleauthor | 최종락 | - |
dc.identifier.doi | 10.47429/lmo.2024.14.1.52 | - |
dc.contributor.localId | A00228 | - |
dc.contributor.localId | A06277 | - |
dc.contributor.localId | A02108 | - |
dc.contributor.localId | A05763 | - |
dc.contributor.localId | A04627 | - |
dc.contributor.localId | A04182 | - |
dc.relation.journalcode | J02151 | - |
dc.identifier.eissn | 2093-6338 | - |
dc.subject.keyword | TRAPPC2 | - |
dc.subject.keyword | Spondyloepiphyseal dysplasia tarda | - |
dc.subject.keyword | Short stature | - |
dc.subject.keyword | Functional study | - |
dc.contributor.alternativeName | Kwon, Ah Reum | - |
dc.contributor.affiliatedAuthor | 권아름 | - |
dc.contributor.affiliatedAuthor | 김수진 | - |
dc.contributor.affiliatedAuthor | 신새암 | - |
dc.contributor.affiliatedAuthor | 원동주 | - |
dc.contributor.affiliatedAuthor | 이승태 | - |
dc.contributor.affiliatedAuthor | 최종락 | - |
dc.citation.volume | 14 | - |
dc.citation.number | 1 | - |
dc.citation.startPage | 52 | - |
dc.citation.endPage | 55 | - |
dc.identifier.bibliographicCitation | Laboratory Medicine Online, Vol.14(1) : 52-55, 2024-01 | - |
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