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机译:与致命性脑病相关的MTPAP中的双胞胎突变
Paris Descartes Univ Inst Imagine Sorbonne Paris Cite Lab Neurogenet &
Neuroinflammat Paris;
Newcastle Univ Wellcome Ctr Mitochondrial Res Newcastle Upon Tyne Tyne &
Wear England;
Univ Newcastle Newcastle NSW Australia HNELHD Hunter Genet Unit Newcastle NSW Australia;
Manchester Univ NHS Fdn Trust St Marys Hosp Manchester Ctr Genom Med Manchester Lancs England;
Univ New South Wales NeuRA Sydney NSW Australia;
Manchester Univ NHS Fdn Trust St Marys Hosp Manchester Ctr Genom Med Manchester Lancs England;
Manchester Univ Fdn Trust Royal Manchester Childrens Hosp Dept Paediat Neurol Manchester Lancs;
Paris Descartes Univ Inst Imagine Sorbonne Paris Cite Lab Neurogenet &
Neuroinflammat Paris;
Newcastle Univ Wellcome Ctr Mitochondrial Res Newcastle Upon Tyne Tyne &
Wear England;
Newcastle Univ Wellcome Ctr Mitochondrial Res Newcastle Upon Tyne Tyne &
Wear England;
Leeds Gen Infirm Dept Paediat Neurol Leeds W Yorkshire England;
Newcastle Univ Wellcome Ctr Mitochondrial Res Newcastle Upon Tyne Tyne &
Wear England;
Paris Descartes Univ Inst Imagine Sorbonne Paris Cite Lab Neurogenet &
Neuroinflammat Paris;
MTPAP; mitochondrial poly(A) polymerase; encephalopathy; lethal encephalopathy; calcification;
机译:与致命性脑病相关的MTPAP中的双胞胎突变
机译:ABCB1中的双胞胎突变显示复发性可逆脑病
机译:早期婴儿癫痫患者血液脑病因双胞胎猪突变而导致
机译:从合成致命突变中推断基因的功能
机译:C末端皮瓣内切核酸酶(rad27)突变:与酿酒酵母中DNA连接酶I突变(cdc9-p)的致命相互作用以及通过增殖细胞核抗原(POL30)的抑制作用。
机译:双等位基因PIGP突变引起的早期婴儿癫痫性运动障碍性脑病
机译:ABCB1中的双胞胎突变显示复发性可逆脑病