Llwytho...
Biochemical analysis of the G517V POLG variant reveals wild-type like activity
The c.1550 g→t mutation in the POLG gene causing the G517V substitution has been reported by many groups to be associated with a variety of mitochondrial diseases, including autosomal dominant and recessive forms of ataxia neuropathy, myopathy and microcephaly, progressive external ophthalmoplegia,...
Wedi'i Gadw mewn:
| Prif Awduron: | , |
|---|---|
| Fformat: | Artigo |
| Iaith: | Inglês |
| Cyhoeddwyd: |
2011
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| Pynciau: | |
| Mynediad Ar-lein: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3206148/ https://ncbi.nlm.nih.gov/pubmed/21856450 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.mito.2011.08.003 |
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