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SCIE SCOPUS
갑상선호르몬 저항증후군환자에서 발견한 갑상선호르몬 수용체 유전자돌연변이 (전신성과 뇌하수체성 갑상선호르몬 저항증후군 각 1예)
Mutations in Thyroid Hormone Receptor-β Associated with Patients with Generalized Resistance and Pituitary Resistance to Thyroid Hormone
윤용석(Yong Seok Yun),홍성관(Sung Kkwan Hong),안철우(Chul Woo Ahn),남재현(Jae Hyun Nam),박석원(Seok Won Park),차봉수(Bong Su Cha),송영득(Young Duk Song),이은직(Eun Jig Lee),임승길(Sung Kil Lim),김경래(Kyung Rae Kim),이현철(Hyun Chul Lee),허갑범(Kap Bum Huh)
UCI I410-ECN-0102-2009-510-005301410
* 발행 기관의 요청으로 구매가 불가능한 자료입니다.

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).

[자료제공 : 네이버학술정보]
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