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Updated: May 26, 2025

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在两个身材矮小的中国家庭中识别和功能分析NPR2截断突变

Shuoshuo Wei1,2, Rong Li1,3, Dongye He1,2

  • 1Department of Endocrinology, Genetics and Metabolism, Affiliated Hospital of Jining Medical University, 89 Guhuai Road, Jining, Shandong, 272029, P.R. China.

BMC pediatrics
|February 25, 2025
PubMed
概括

在中国家庭中发现了两种导致矮身的NPR2基因突变. 这些功能丧失突变会损害NPR2蛋白的功能,并影响骨生长.

关键词:
功能丧失 - 功能丧失.这种基因是NPR2基因.人身矮小,身材矮小的人.截断的蛋白质是截断的蛋白质.削减突变的发生

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