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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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Detalhes bibliográficos
Publicado no:eNeurologicalSci
Main Authors: Qualls, Clifford, Kornfeld, Mario, Joste, Nancy, Ali, Abdul-Mehdi, Appenzeller, Otto
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2016
Assuntos:
Acesso em linha: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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