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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...

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Bibliografische gegevens
Gepubliceerd in:eNeurologicalSci
Hoofdauteurs: Qualls, Clifford, Kornfeld, Mario, Joste, Nancy, Ali, Abdul-Mehdi, Appenzeller, Otto
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Elsevier 2016
Onderwerpen:
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5818138/
https://ncbi.nlm.nih.gov/pubmed/29473055
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ensci.2016.01.004
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