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갑상선호르몬 저항증후군 환자에서 발견한 갑상선호르몬 수용체 유전자 돌연변이 (전신성과 뇌하수체성 갑상선 호르몬 저항 증후군 각 1예)
DC Field | Value | Language |
---|---|---|
dc.contributor.author | 안철우 | - |
dc.contributor.author | 이현철 | - |
dc.date.accessioned | 2019-11-11T05:38:56Z | - |
dc.date.available | 2019-11-11T05:38:56Z | - |
dc.date.issued | 2000 | - |
dc.identifier.issn | 1015-6380 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/172044 | - |
dc.description.abstract | We report a point mutation in the TRβ gene in korean patients with generalized resistance and pituitary resistance to thyroid hormone. One mutation at TRβ(P453S) were detected in patient with pituitary resistance to thyroid, which showed different phenotype, generalized resistance to thyroid hormone, in her mothers. But, the other(C31Y), did not show clear relations with the disease. Therefore, further study of molecular and cellular basis will be warranted to explain the clear mechanism of the resistance to thyroid hormone(J Kor Soc Endocrinol 15:113-120, 2000). | - |
dc.description.statementOfResponsibility | restriction | - |
dc.language | Korean | - |
dc.publisher | 대한내분비학회 | - |
dc.relation.isPartOf | Journal of Korea Society of Endocrinology (대한내분비학회지) | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.title | 갑상선호르몬 저항증후군 환자에서 발견한 갑상선호르몬 수용체 유전자 돌연변이 (전신성과 뇌하수체성 갑상선 호르몬 저항 증후군 각 1예) | - |
dc.title.alternative | Mutations in Thyroid Hormone Receptor-β Associated with Patients with Generalized Resistance and Pituitary Resistance to Thyroid Hormone | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Internal Medicine (내과학교실) | - |
dc.contributor.googleauthor | 윤용석 | - |
dc.contributor.googleauthor | 홍성관 | - |
dc.contributor.googleauthor | 안철우 | - |
dc.contributor.googleauthor | 남재현 | - |
dc.contributor.googleauthor | 박석원 | - |
dc.contributor.googleauthor | 차봉수 | - |
dc.contributor.googleauthor | 송영득 | - |
dc.contributor.googleauthor | 이은직 | - |
dc.contributor.googleauthor | 임승길 | - |
dc.contributor.googleauthor | 김경래 | - |
dc.contributor.googleauthor | 이현철 | - |
dc.contributor.googleauthor | 허갑범 | - |
dc.contributor.localId | A02270 | - |
dc.contributor.localId | A03301 | - |
dc.relation.journalcode | J01478 | - |
dc.identifier.url | http://kiss.kstudy.com/thesis/thesis-view.asp?key=1847084 | - |
dc.subject.keyword | Resistance to thyroid hormone | - |
dc.subject.keyword | T3 receptor gene | - |
dc.subject.keyword | Mutationc | - |
dc.contributor.alternativeName | Ahn, Chul Woo | - |
dc.contributor.affiliatedAuthor | 안철우 | - |
dc.contributor.affiliatedAuthor | 이현철 | - |
dc.citation.volume | 15 | - |
dc.citation.number | 1 | - |
dc.citation.startPage | 113 | - |
dc.citation.endPage | 120 | - |
dc.identifier.bibliographicCitation | Journal of Korea Society of Endocrinology (대한내분비학회지), Vol.15(1) : 113-120, 2000 | - |
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