A novel homozygous nonsense mutation in the CA2 gene (c.368G>A, p.W123X) linked to carbonic anhydrase II deficiency syndrome in a Chinese family

被引：0
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作者：
Yan Yang
Nie Tang
Ying Zhu
Lei Zhang
Xu Cao
Limei Liu
Wei Xia
Pengqiu Li
Yi Yang
机构：
[1] University of Electronic Science and Technology of China,Department of Endocrinology, Sichuan Provincial People’s Hospital
[2] Chinese Academy of Sciences Sichuan Translational Medicine Research Hospital,undefined
来源：
Metabolic Brain Disease | 2021年 / 36卷
关键词：
Carbonic anhydrase II deficiency syndrome; Whole exome sequencing; Homozygous nonsense mutation; Minigene model; Human embryonic kidney 293T cells;
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页码：589 / 599
页数：10
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