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갑상선호르몬 저항증후군 환자에서 발견한 갑상선호르몬 수용체 유전자 돌연변이 (전신성과 뇌하수체성 갑상선 호르몬 저항 증후군 각 1예)

Other Titles
 Mutations in Thyroid Hormone Receptor-β Associated with Patients with Generalized Resistance and Pituitary Resistance to Thyroid Hormone 
Authors
 윤용석  ;  홍성관  ;  안철우  ;  남재현  ;  박석원  ;  차봉수  ;  송영득  ;  이은직  ;  임승길  ;  김경래  ;  이현철  ;  허갑범 
Citation
 Journal of Korea Society of Endocrinology (대한내분비학회지), Vol.15(1) : 113-120, 2000 
Journal Title
 Journal of Korea Society of Endocrinology (대한내분비학회지) 
ISSN
 1015-6380 
Issue Date
2000
Keywords
Resistance to thyroid hormone ; T3 receptor gene ; Mutationc
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).
Full Text
http://kiss.kstudy.com/thesis/thesis-view.asp?key=1847084
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Internal Medicine (내과학교실) > 1. Journal Papers
Yonsei Authors
Ahn, Chul Woo(안철우) ORCID logo https://orcid.org/0000-0003-3733-7486
Lee, Hyun Chul(이현철)
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/172044
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