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Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy

引用本文：	Senderek J,Krieger M,Stendel C,Bergmann C,Moser M,Breitbach-Faller N,Rudnik-Schöneborn S,Blaschek A,Wolf NI,Harting I,North K,Smith J,Muntoni F,Brockington M,Quijano-Roy S,Renault F,Herrmann R,Hendershot LM,Schröder JM,Lochmüller H,Topaloglu H,Voit T,Weis J,Ebinger F,Zerres K.Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy[J].Nature genetics,2005,37(12):1312-1314.

作者姓名：	Senderek J Krieger M Stendel C Bergmann C Moser M Breitbach-Faller N Rudnik-Schöneborn S Blaschek A Wolf NI Harting I North K Smith J Muntoni F Brockington M Quijano-Roy S Renault F Herrmann R Hendershot LM Schröder JM Lochmüller H Topaloglu H Voit T Weis J Ebinger F Zerres K

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