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在Gitelman综合征的SLC12A3中对新型化合物异构体变体的功能评估

Na Wang1, Yuanxing Yang2, Xiong Tian3

  • 1Department of Clinical Laboratory, Taizhou Hospital of Zhejiang Province Affiliated to Wenzhou Medical University, 150 Ximen Street, Linhai, China.

Orphanet journal of rare diseases
|February 11, 2025
PubMed
概括

吉特曼综合征是由SLC12A3基因中的新功能丧失变异引起的. 这些突变影响了合运输体 (NCC) 蛋白质结构并降低了其功能,扩大了已知的SLC12A3变异谱.

关键词:
基因突变是一种基因突变.吉特曼综合征 (Gitelman综合征) 是一种低血清症是什么情况?功能丧失 - 功能丧失.在 SLC12A3 中.

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