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The P.Ser113Arg (c.339T>G) Mutation in SLC33A1 Acquires Dominant-Negative Functions and Leads to

[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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The P.Ser113Arg (c.339T>G) Mutation in SLC33A1 Acquires Dominant-Negative Functions and Leads to

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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