由TSH受体的细胞外域变体 (p.Leu267Phe) 引起的家族性非自身免疫甲状腺功能障碍

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Kazuhiro Shimura1, Yosuke Ichihashi2, Kiyomi Abe2,3

  • 1Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan, k_4646_0917@hotmail.com.

Hormone research in paediatrics
|February 23, 2025
PubMed
概括

一种新的TSH受体 (TSHR) 变体,Leu267Phe,导致非自身免疫性甲状腺功能障碍 (NAH). 这种基因突变导致TSHR活性增加,有助于疾病的发展.

关键词:
激活变体的激活变体细胞外域是细胞外域.非自身免疫性甲状腺功能增强症这是一个TSH受体.

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