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A Case of Familial Medullary Thyroid Carcinoma with a E768D Mutation in RET Proto-Oncogene

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dc.contributor.author김, 연경-
dc.contributor.author김, 진우-
dc.contributor.author안, 상미-
dc.contributor.author송, 경은-
dc.contributor.author정, 선혜-
dc.contributor.author김, 대중-
dc.contributor.author정, 윤석-
dc.contributor.author이, 관우-
dc.contributor.author김, 철호-
dc.contributor.author홍, 지희-
dc.contributor.author정, 선용-
dc.contributor.author김, 현주-
dc.date.accessioned2011-12-28T04:32:50Z-
dc.date.available2011-12-28T04:32:50Z-
dc.date.issued2005-
dc.identifier.issn1015-6380-
dc.identifier.urihttp://repository.ajou.ac.kr/handle/201003/5066-
dc.description.abstractA medullary thyroid carcinoma, a neoplasm of parafollicular C cell origin, occurs as a sporadic or hereditary disease. A hereditary medullary thyroid carcinoma is an autosomal dominantly inherited disease, which is composed of multiple endocrine neoplasia 2A and 2B, with a familial medullary thyroid carcinoma. Germline mutations of the RET gene are the underlying cause of the majority of hereditary medullary carcinomas. Here, the case of a 42 years-old man with a familial medullary thyroid carcinoma, confirmed by the detection of a RET proto-oncogene mutation at exon 13 on codon 768 from a GAG(Glu) to a GAT(Asp), is described. The patient underwent a total thyroidectomy and modified radical neck dissection. His sister was found to have the same mutant gene.en
dc.formatapplication/pdf-
dc.language.isoko-
dc.titleA Case of Familial Medullary Thyroid Carcinoma with a E768D Mutation in RET Proto-Oncogene-
dc.title.alternativeRET 원종양유전자 돌연변이(E768D)가 확인된 가족성 갑상선 수질암 1예-
dc.typeArticle-
dc.subject.keywordFamilial medullary thyroid carcinoma-
dc.subject.keywordRET proto-oncogene-
dc.contributor.affiliatedAuthor김, 연경-
dc.contributor.affiliatedAuthor안, 상미-
dc.contributor.affiliatedAuthor송, 경은-
dc.contributor.affiliatedAuthor정, 선혜-
dc.contributor.affiliatedAuthor김, 대중-
dc.contributor.affiliatedAuthor정, 윤석-
dc.contributor.affiliatedAuthor이, 관우-
dc.contributor.affiliatedAuthor김, 철호-
dc.contributor.affiliatedAuthor정, 선용-
dc.contributor.affiliatedAuthor김, 현주-
dc.type.localJournal Papers-
dc.identifier.doi10.3803/jkes.2005.20.4.375-
dc.citation.titleJournal of Korean Society of Endocrinology-
dc.citation.volume20-
dc.citation.number4-
dc.citation.date2005-
dc.citation.startPage375-
dc.citation.endPage380-
dc.identifier.bibliographicCitationJournal of Korean Society of Endocrinology, 20(4). : 375-380, 2005-
dc.relation.journalidJ010156380-
Appears in Collections:
Journal Papers > School of Medicine / Graduate School of Medicine > Endocrinology & Metabolism
Journal Papers > School of Medicine / Graduate School of Medicine > Otolaryngology
Journal Papers > School of Medicine / Graduate School of Medicine > Medical Genetics
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