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

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Moser,  M.
Fässler, Reinhard / Molecular Medicine, Max Planck Institute of Biochemistry, Max Planck Society;

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Senderek, J., Krieger, M., Stendel, C., Bergmann, C., Moser, M., Breitbach-Faller, N., Rudnik-Schoneborn, S., Blaschek, A., Wolf, N. I., Harting, I., North, K., Smith, J., Muntoni, F., Brockington, M., Quijano-Roy, S., Renault, F., Herrmann, R., Hendershot, L. M., Schroder, J. M., Lochmuller, H., Topaloglu, H., Voit, T., Weis, J., Ebinger, F., & Zerres, K. (2005). Mutations in SIL1 cause Marinesco-Sjogren syndrome, a cerebellar ataxia with cataract and myopathy. Nature Genetics, 37(12), 1312-1314.


引用: https://hdl.handle.net/11858/00-001M-0000-0010-64FD-6
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