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在599名患有先天性甲状腺功能低下症的中国患者中,对DUOXA2变体进行了大规模查和功能研究

Hai-Yang Zhang1,2, Cao-Xu Zhang3, Feng-Yao Wu1

  • 1The Core Laboratory in Medical Center of Clinical Research, Department of Molecular Diagnostics and Endocrinology, Shanghai Ninth People's Hospital, State Key Laboratory of Medical Genomics, Shanghai Jiao Tong University School of Medicine, Shanghai 200011, China.

European journal of endocrinology
|June 13, 2025
PubMed
概括

在中国先天性甲状腺功能低下症 (CH) 患者中发现了DUOXA2基因的遗传变异,其中许多影响DUOX2酶功能. 这扩大了对CH的原因和表型的理解.

关键词:
遗传性甲状腺功能低下症是先天的双氧化酶 2 2 的作用.双氧化酶成熟因子 2 的二次氧化酶成熟因子.基因型-表型分析分析变种 变种 变种 变种 变种

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