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Co-occurrence of four nucleotide changes associated with an adult mitochondrial ataxia phenotype
BACKGROUND: Mitochondrial DNA maintenance disorders are an important cause of hereditary ataxia syndrome, and the majority are associated with mutations in the gene encoding the catalytic subunit of the mitochondrial DNA polymerase (DNA polymerase gamma), POLG. Mutations resulting in the amino acid...
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| Publicado no: | BMC Res Notes |
|---|---|
| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2014
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4295309/ https://ncbi.nlm.nih.gov/pubmed/25488682 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1756-0500-7-883 |
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