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Hepatocerebral Form of Mitochondrial DNA Depletion Syndrome Due to Mutation in MPV17 Gene
Mitochondrial DNA depletion syndromes (MDSs) are autosomal recessive diseases characterized by a severe decrease in mitochondrial DNA content leading to dysfunction of the affected organ. Autosomal recessive mutations in MPV17 have been identified in the hepatocerebral form of MDS. We describe the c...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Medknow Publications & Media Pvt Ltd
2012
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3409892/ https://www.ncbi.nlm.nih.gov/pubmed/22824774 http://dx.doi.org/10.4103/1319-3767.98439 |