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Updated: Jul 25, 2025

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在人类中,ERI1的零和错误突变会导致衰退的表型二分法

Long Guo1, Smrithi Salian2, Jing-Yi Xue3

  • 1Department of Laboratory Animal Science, School of Basic Medical Sciences, Xi'an Jiaotong University, Xi'an 710061, China; National Local Joint Engineering Research Center for Precision Surgery & Regenerative Medicine, the First Affiliated Hospital of Xi'an Jiaotong University, Xi'an 710061, China; Center of Medical Genetics, Northwest Women's and Children's Hospital, the Affiliated Northwest Women's and Children's Hospital of Xi'an Jiaotong University Health Science Center, Xi'an 710003, China.

American journal of human genetics
|June 23, 2023
PubMed
概括

ERI1 (RNA处理中的关键酶) 的遗传变异会导致明显的骨和发育障碍. 误解变体会导致严重的发育不良,而零变体会导致较轻的智力和数字问题.

关键词:
ERI1 ERI1 的意思是催化腺核酸酶的存在核糖体变异症是一种核糖体变异症.矮身高 矮身高的人骨发育不良症 骨发育不良症脊髓皮甲状腺细胞质变异症 脊髓皮细胞质变异症

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