Cited 4 times in
A mutation of the succinate dehydrogenase B gene in a Korean family with paraganglioma
DC Field | Value | Language |
---|---|---|
dc.contributor.author | 김미주 | - |
dc.contributor.author | 문인석 | - |
dc.contributor.author | 이현진 | - |
dc.date.accessioned | 2017-10-26T07:28:13Z | - |
dc.date.available | 2017-10-26T07:28:13Z | - |
dc.date.issued | 2016 | - |
dc.identifier.issn | 1389-9600 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/152072 | - |
dc.description.abstract | Familial paraganglioma (PGL) is a dominantly inherited disorder characterized by development of PGLs in the head and neck region. Germline mutations in genes coding for succinate dehydrogenase (SDH) subunits D, B, and C (SDHD, SDHB, SDHC) are found in almost all familial PGL patients. A 19-year-old female presented with pulsatile tinnitus and a reddish pulsating mass in the external auditory canal, and her mother complained of similar symptoms. Paraganglioma was found in both patients and was surgically removed. We report a case of germline SDHB mutation. This mutation was a deletion of thymine at nucleotide position 757 in exon 7 of the SDHB gene (c.757delT). | - |
dc.description.statementOfResponsibility | restriction | - |
dc.language | English | - |
dc.publisher | Springer | - |
dc.relation.isPartOf | FAMILIAL CANCER | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.rights.uri | https://creativecommons.org/licenses/by-nc-nd/2.0/kr/ | - |
dc.subject.MESH | Asian Continental Ancestry Group/genetics | - |
dc.subject.MESH | Ear Neoplasms/genetics | - |
dc.subject.MESH | Ear Neoplasms/surgery | - |
dc.subject.MESH | Female | - |
dc.subject.MESH | Germ-Line Mutation* | - |
dc.subject.MESH | Heterozygote | - |
dc.subject.MESH | Humans | - |
dc.subject.MESH | Paraganglioma/genetics* | - |
dc.subject.MESH | Paraganglioma/surgery | - |
dc.subject.MESH | Succinate Dehydrogenase/genetics* | - |
dc.subject.MESH | Tinnitus/genetics | - |
dc.subject.MESH | Tinnitus/pathology | - |
dc.subject.MESH | Tympanic Membrane/pathology | - |
dc.subject.MESH | Young Adult | - |
dc.title | A mutation of the succinate dehydrogenase B gene in a Korean family with paraganglioma | - |
dc.type | Article | - |
dc.publisher.location | Netherlands | - |
dc.contributor.college | College of Medicine | - |
dc.contributor.department | Dept. of Otorhinolaryngology | - |
dc.contributor.googleauthor | Borum Sagong | - |
dc.contributor.googleauthor | Young Joon Seo | - |
dc.contributor.googleauthor | Hyun-Jin Lee | - |
dc.contributor.googleauthor | Mi Joo Kim | - |
dc.contributor.googleauthor | Un-Kyung Kim | - |
dc.contributor.googleauthor | In Seok Moon | - |
dc.identifier.doi | 10.1007/s10689-016-9874-8 | - |
dc.contributor.localId | A01374 | - |
dc.contributor.localId | A05018 | - |
dc.contributor.localId | A00452 | - |
dc.relation.journalcode | J02993 | - |
dc.identifier.eissn | 1573-7292 | - |
dc.relation.journalsince | 2000 | - |
dc.identifier.pmid | 26833045 | - |
dc.identifier.url | https://link.springer.com/article/10.1007%2Fs10689-016-9874-8 | - |
dc.subject.keyword | Germ-line mutation | - |
dc.subject.keyword | Paraganglioma | - |
dc.subject.keyword | Succinate dehydrogenase | - |
dc.contributor.alternativeName | Kim, Mi Joo | - |
dc.contributor.alternativeName | Moon, In Seok | - |
dc.contributor.alternativeName | Lee, Hyun Jin | - |
dc.contributor.affiliatedAuthor | Moon, In Seok | - |
dc.contributor.affiliatedAuthor | Lee, Hyun Jin | - |
dc.contributor.affiliatedAuthor | Kim, Mi Joo | - |
dc.citation.volume | 15 | - |
dc.citation.number | 4 | - |
dc.citation.startPage | 601 | - |
dc.citation.endPage | 606 | - |
dc.identifier.bibliographicCitation | FAMILIAL CANCER, Vol.15(4) : 601-606, 2016 | - |
dc.date.modified | 2017-10-24 | - |
dc.identifier.rimsid | 46852 | - |
dc.type.rims | ART | - |
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