转录辅助调节因子HCFC1 突变致罕见X 连锁甲基丙二酸尿症CblX 型一家系报告
李东晓, 刘玉鹏, 丁圆, 李溪远, 宋金青, 李梦秋, 秦亚萍, 杨艳玲
A pedigree of a rare Cb1X type X-linked methylmalonic acidemia due to transcriptional co-regulator HCFC1 mutation
LI Dongxiao, LIU Yupeng, DING Yuan, LI Xiyuan, SONG Jinqing, LI Mengqiu, QIN Yaping, YANG Yanling
临床儿科杂志
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2016, (3): 212
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DOI: 10.3969 j.issn.1000-3606.2016.03.014
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