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Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 20, p. 2981, doi. 10.1093/hmg/ddi328
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- Publication type:
- Article
Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria.
- Published in:
- Nature Genetics, 2001, v. 28, n. 3, p. 223, doi. 10.1038/90058
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- Publication type:
- Article