Nephrocalcinosis and retinal dystrophy, rare manifestations of MPV17-related mitochondrial depletion syndrome?
Krankenanstalt Rudolfstiftung, Vienna, Austria.
Josef
J
Finsterer
Genomics Platform, Pasteur Institute of Tunis, Tunisia.
Sinda
S
Zarrouk-Mahjoub
Gene; Hepatocerebral; Mitochondrial depletion syndrome; Mutation; mpv17; mtDNA
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24382854
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27536553