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功能性鉴定两种新型变体和ASS1中的一个低形变体,来自1型林血病患者

Jing Liu1,2, Zhongjie Wang3, Huiming Yan1

  • 1Department of Medical Genetics, Maternal and Child Health Hospital of Hunan Province, Changsha, Hunan, China.

Frontiers in genetics
|July 24, 2023
PubMed
概括

第一种类型的素血 (CTLN1) 是一种尿素循环障碍. 研究人员确定了两种新型和一种低形态ASS1基因变异,通过功能性研究证实了它们的致病性,以改善基因型-表型理解.

关键词:
在ASS1中,它是ASS1.一种类型I的素素血症.酶活性的酶活动.低形态变体 低形态变体尿素循环障碍 尿素循环障碍

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