NAMDC: RRM1 Variants and Impaired De Novo Nucleotide Synthesis Identified as Causes of Mitochondrial DNA Depletion Syndromes

Aug 15, 2022 · 1m 57s
NAMDC: RRM1 Variants and Impaired De Novo Nucleotide Synthesis Identified as Causes of Mitochondrial DNA Depletion Syndromes
Description

New research from the North American Mitochondrial Disease Consortium (NAMDC). This summary is based on a paper published in the Journal of Clinical Investigation on May 26, 2022, titled "RRM1...

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New research from the North American Mitochondrial Disease Consortium (NAMDC). This summary is based on a paper published in the Journal of Clinical Investigation on May 26, 2022, titled "RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesis."

Read the paper here: https://www.jci.org/articles/view/145660

Learn more about NAMDC: https://www1.rarediseasesnetwork.org/cms/namdc
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Author RDCRN
Organization RDCRN
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