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MPV17-related hepatocerebral mitochondrial DNA depletion syndrome (MPV17-NNH) revisited
MPV17-related hepatocerebral mitochondrial DNA depletion syndrome (previously known as Navajo neurohepatopathy) was discovered in children in the Four Corner's region of New Mexico approximately 40 years ago. This disease is associated with a single missense mutation in exon 2 in the MPV17 gene...
Autores principales: | Qualls, Clifford, Kornfeld, Mario, Joste, Nancy, Ali, Abdul-Mehdi, Appenzeller, Otto |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5818138/ https://www.ncbi.nlm.nih.gov/pubmed/29473055 http://dx.doi.org/10.1016/j.ensci.2016.01.004 |
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