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Variable phenotypes and outcomes associated with the MMACHC c.609GA homologous mutation: long term follow-up in a large cohort of cases

机译：与MMACHC C.609G相关的可变表型和结果同源突变：大群组队列中的长期随访

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摘要

General information pertaining to 149 patients caused by the MMACHC c.609G > A homozygous mutation

机译：涉及149名患者的一般信息，由MMACHC C.609g造成的纯合突变

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期刊名称 Orphanet Journal of Rare Diseases
作者
Ruxuan He; Ruo Mo; Ming Shen; Lulu Kang; Jinqing Song; Yi Liu; Zhehui Chen; Hongwu Zhang; Hongxin Yao; Yupeng Liu; Yao Zhang; Hui Dong; Ying Jin; Mengqiu Li; Jiong Qin; Hong Zheng; Yongxing Chen; Dongxiao Li; Haiyan Wei; Xiyuan Li; Huifeng Zhang; Min Huang; Chunyan Zhang; Yuwu Jiang; Desheng Liang; Yaping Tian; Yanling Yang;
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年(卷),期 2020(-1),-1
年度 2020
页码 -1
总页数 9
原文格式 PDF
正文语种
中图分类医学史;
关键词

机译：Cobalamin C缺乏（;

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Variable phenotypes and outcomes associated with the MMACHC c.609GA homologous mutation: long term follow-up in a large cohort of cases

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