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A novel POLG gene mutation in a patient with SANDO
The human mitochondrial genome is replicated by DNA polymerase γ, which is encoded by polymerase γ gene (POLG1) on chromosome 15q25. Patients with POLG1 mutations usually present as Alpers’ syndrome or progressive external ophthalmoplegia. Our patient was a 48-year old woman with sensory ataxic neur...
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| Main Authors: | , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2012
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3832984/ https://ncbi.nlm.nih.gov/pubmed/24265579 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5455/jeim.200312.cr.001 |
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