一例PYGM基因复合杂合突变导致糖原累积症V型的诊断和基因检测分析
蒋琬姿, 徐昳文, 王依文, 朱肖诚, 龚颖芸, 周红文, 付真真
Diagnosis and genetic analysis of a case with glycogen storage disease type V caused by compound heterozygous mutations in the PYGM gene
Wanzi Jiang, Yiwen Xu, Yiwen Wang, Xiaocheng Zhu, Yingyun Gong, Hongwen Zhou, Zhenzhen Fu
遗传
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2022, (11): 1063
-1071
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DOI: 10.16288/j.yczz.22-223
