错义突变
遗传学
等位基因
突变
生物
桑格测序
突变体
分子生物学
表型
先证者
基因
作者
Hong Luo,Yuan Shao,Jizhi Wen,Zhixiao Chen,Yanli Ji,Jiali Wang,Zhen Wang,Guangping Luo
出处
期刊:Transfusion
[Wiley]
日期:2023-02-28
卷期号:63 (5): 912-917
被引量:2
摘要
A novel missense mutation led to an amino acid variant p.Leu297Phe in α2FucT1, which was a potential cause of the inactivation of the enzyme. Computational evaluation was a convenient and useful approach for the mutation effect analysis of the enzyme.
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