MMAA基因非编码区变异叠加单亲二体所致甲基丙二酸血症的多组学分析
霍晓燕, 罗小梅, 叶贤涛, 孙昱, 余永国, 梁黎黎, 范燕洁
Multi-omics analysis of methylmalonic acidemia caused by a non-coding region variant in MMAA gene combined with uniparental disomy
HUO Xiaoyan, LUO Xiaomei, YE Xiantao, SUN Yu, YU Yongguo, LIANG Lili, FAN Yanjie
上海交通大学学报（医学版）
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2025, (6): 800
-806
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DOI: 10.3969/j.issn.1674-8115.2025.06.016
