A mutation of the succinate dehydrogenase B gene in a Korean family with paraganglioma
DC Field | Value | Language |
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dc.contributor.author | Sagong, Borum | - |
dc.contributor.author | Seo, Young Joon | - |
dc.contributor.author | Lee, Hyun-Jin | - |
dc.contributor.author | Kim, Mi Joo | - |
dc.contributor.author | Kim, Un-Kyung | - |
dc.contributor.author | Moon, In Seok | - |
dc.date.accessioned | 2024-06-07T06:00:31Z | - |
dc.date.available | 2024-06-07T06:00:31Z | - |
dc.date.issued | 2016-10 | - |
dc.identifier.issn | 1389-9600 | - |
dc.identifier.issn | 1573-7292 | - |
dc.identifier.uri | https://scholarworks.bwise.kr/cau/handle/2019.sw.cau/74055 | - |
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.format.extent | 6 | - |
dc.language | 영어 | - |
dc.language.iso | ENG | - |
dc.publisher | SPRINGER | - |
dc.title | A mutation of the succinate dehydrogenase B gene in a Korean family with paraganglioma | - |
dc.type | Article | - |
dc.identifier.doi | 10.1007/s10689-016-9874-8 | - |
dc.identifier.bibliographicCitation | FAMILIAL CANCER, v.15, no.4, pp 601 - 606 | - |
dc.description.isOpenAccess | N | - |
dc.identifier.wosid | 000382681500014 | - |
dc.identifier.scopusid | 2-s2.0-84985881473 | - |
dc.citation.endPage | 606 | - |
dc.citation.number | 4 | - |
dc.citation.startPage | 601 | - |
dc.citation.title | FAMILIAL CANCER | - |
dc.citation.volume | 15 | - |
dc.type.docType | Article | - |
dc.publisher.location | 네델란드 | - |
dc.subject.keywordAuthor | Germ-line mutation | - |
dc.subject.keywordAuthor | Succinate dehydrogenase | - |
dc.subject.keywordAuthor | Paraganglioma | - |
dc.subject.keywordPlus | HEREDITARY PARAGANGLIOMA | - |
dc.subject.keywordPlus | PHEOCHROMOCYTOMA | - |
dc.subject.keywordPlus | SDHB | - |
dc.subject.keywordPlus | PREDICTORS | - |
dc.subject.keywordPlus | TUMORS | - |
dc.subject.keywordPlus | NECK | - |
dc.subject.keywordPlus | HEAD | - |
dc.relation.journalResearchArea | Oncology | - |
dc.relation.journalResearchArea | Genetics & Heredity | - |
dc.relation.journalWebOfScienceCategory | Oncology | - |
dc.relation.journalWebOfScienceCategory | Genetics & Heredity | - |
dc.description.journalRegisteredClass | scie | - |
dc.description.journalRegisteredClass | scopus | - |
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