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MPV17 mutations in patients with hepatocerebral mitochondrial DNA depletion syndrome

MPV17-related hepatocerebral mitochondrial DNA depletion syndrome (MDS) is a very rare condition, and only a few cases have been reported in East Asian countries. Here, we describe four Korean children affected by hepatocerebral MDS. The DGUOK, POLG1, and MPV17 genes were analyzed, and all patients...

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Hoofdauteurs: Joonil Kim, Eungu Kang, Yoonmyung Kim, Jae-Min Kim, Beom Hee Lee, Kei Murayama, Gu-Hwan Kim, In Hee Choi, Kyung Mo Kim, Han-Wook Yoo
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Elsevier 2016-09-01
Reeks:Molecular Genetics and Metabolism Reports
Onderwerpen:
Hepatocerebral mitochondrial DNA depletion syndrome
MPV17
Navajo neurohepatopathy
Online toegang:http://www.sciencedirect.com/science/article/pii/S2214426916300441
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