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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Detalles Bibliográficos
Autores principales: Qualls, Clifford, Kornfeld, Mario, Joste, Nancy, Ali, Abdul-Mehdi, Appenzeller, Otto
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2016
Materias:
Original Article
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

Internet

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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