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Updated: Jun 4, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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新型化合物异质合体误解SLC5A5基因变异的功能性表征,导致先天性双激素性甲状腺功能低下症

Gerardo Hernán Carro1,2, Mariano Martín1,2, Sofía Savy1,2

  • 1Departamento de Bioquímica Clínica, Facultad de Ciencias Químicas, Universidad Nacional de Córdoba, Córdoba, Argentina.

Frontiers in endocrinology
|January 3, 2025
PubMed
概括

在SLC5A5基因的新型变异导致先天性甲状腺功能低下通过损害积累. 这项研究确定了这种疾病的新遗传原因,影响了甲状腺激素的产生.

关键词:
双基功能丧失 SLC5A5 变体遗传性甲状腺功能低下症是先天的化物运输缺陷 化物运输缺陷化同载体 (NIS) 是一种同载体.整体外基因组测序的测序

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