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[期刊论文] 作者:Guo Pengde,Yan Fei,Tian Cheng,Zhao Pengfei,Wang Zhenchang,Xian Junfang,
来源:中华医学杂志英文版 年份:2014
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[会议论文] 作者:Fei Mao,Zhaohui Li,Baoyue Zhao,Pengfei Lin,Pingting Liu,Meng Zhai,Qiji Liu,Changshun Shao,Wenjie Sun,,
来源:2014全球华人遗传学大会暨全国第十三次医学遗传学学术会议 年份:2014
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[会议论文] 作者:Fei Mao,Zhaohui Li,Baoyue Zhao,Pengfei Lin,Pingting Liu,Meng Zhai,Qiji Liu,Changshun Shao,Wenjie Sun,,
来源:2014全球华人遗传学大会暨全国第十三次医学遗传学学术会议 年份:2014
While we previously reported heterozygous SLC33A1 p.Ser113Arg (c.339T>G) mutation as the cause for SPG42, hereditary spastic paraplegia (HSP) phenotype was recently reported to be absent in heterozygo...
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