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De Novo Mutation in POLG Leads to Haplotype Insufficiency and Alpers Syndrome
Mutations in POLG are a major contributor to pediatric and adult mitochondrial diseases. However, the consequences of many POLG mutations are not well understood. We investigated the molecular cause of Alpers syndome in a patient harboring the POLG mutations A467T in trans with c.2157+5_+6 gc→ag in...
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| Hauptverfasser: | , , , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
2009
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| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2748142/ https://ncbi.nlm.nih.gov/pubmed/19501198 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.mito.2009.05.002 |
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