Nephrocalcinosis and retinal dystrophy, rare manifestations of MPV17-related mitochondrial depletion syndrome?

Josef Finsterer 1, * Sinda Zarrouk-Mahjoub 2
* Corresponding author
1 Krankenanstalt Rudolfstiftung
2 LR11IPT05 - Laboratoire de Génomique Biomédicale et Oncogénétique - Biomedical Genomics and Oncogenetics Laboratory
Abstract : no abstract
Keywords : Gene Hepatocerebral Mitochondrial depletion syndrome Mutation mpv17 mtDNA
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Submitted on : Monday, February 6, 2017 - 11:34:43 AM
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Josef Finsterer, Sinda Zarrouk-Mahjoub. Nephrocalcinosis and retinal dystrophy, rare manifestations of MPV17-related mitochondrial depletion syndrome?. Molecular Genetics and Metabolism Reports, Elsevier, 2016, 9 (18), ⟨10.1016/j.ymgmr.2016.09.002 ⟩. ⟨pasteur-01457092⟩

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