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Complete Deletion of a POLG1 Allele in a Patient with Alpers Syndrome
Mutations in the gene encoding the catalytic subunit of polymerase γ (POLG1) are a major cause of human mitochondrial disease. More than 150 different point mutations in the gene have been reported to be disease causing, resulting in a large range of clinical symptoms. Depending on the mutation or c...
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| Autors principals: | , , , , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Springer Berlin Heidelberg
2011
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3509876/ https://ncbi.nlm.nih.gov/pubmed/23430898 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2011_73 |
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