人类中的TRα突变

TRα Mutations in Human.

作者信息

Briet C, Bouhours-Nouet Natacha, Illouz F, Prunier-Mirebeau D, Rodien P

机构信息

Centre de référence des maladies rares de la thyroïde et des Récepteurs hormonaux, service EDN, CHU d'Angers, Institut MITOVASC, Université d'Angers, Angers, France.

出版信息

Methods Mol Biol. 2018;1801:241-245. doi: 10.1007/978-1-4939-7902-8_19.

DOI:10.1007/978-1-4939-7902-8_19

PMID:29892829

Abstract

Resistance to thyroid hormone alpha is an emerging syndrome, with up to now a limited number of published cases. Some features are common to most of the patients, but there is still some work to provide a comprehensive description of the full spectrum of the syndrome. A survey of the strategy to screen for and characterize the mutations in TR α gene is given.

摘要

甲状腺激素α抵抗是一种新出现的综合征，迄今为止发表的病例数量有限。大多数患者有一些共同特征，但仍需开展一些工作来全面描述该综合征的全貌。本文对筛查和鉴定TRα基因突变的策略进行了综述。