A conserved eEF2 coding variant in SCA26 leads to loss of translational fidelity and increased susceptibility to proteostatic insult
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Title
A conserved eEF2 coding variant in SCA26 leads to loss of translational fidelity and increased susceptibility to proteostatic insult
Authors
Keywords
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Journal
HUMAN MOLECULAR GENETICS
Volume 21, Issue 26, Pages 5472-5483
Publisher
Oxford University Press (OUP)
Online
2012-09-22
DOI
10.1093/hmg/dds392
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- (2009) Nozomu Sato et al. AMERICAN JOURNAL OF HUMAN GENETICS
- The Sequence Alignment/Map format and SAMtools
- (2009) H. Li et al. BIOINFORMATICS
- Cellular and Molecular Pathways Triggering Neurodegeneration in the Spinocerebellar Ataxias
- (2009) Antoni Matilla-Dueñas et al. CEREBELLUM
- Emerging pathogenic pathways in the spinocerebellar ataxias
- (2009) Kerri M Carlson et al. CURRENT OPINION IN GENETICS & DEVELOPMENT
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- (2009) Lihong Zhao et al. HUMAN MOLECULAR GENETICS
- KCNC3: phenotype, mutations, channel biophysics-a study of 260 familial ataxia patients
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