NAMDC: RRM1 Variants and Impaired De Novo Nucleotide Synthesis Identified as Causes of Mitochondrial DNA Depletion Syndromes
Aug 15, 2022 ·
1m 57s
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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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Read the paper here: https://www.jci.org/articles/view/145660
Learn more about NAMDC: https://www1.rarediseasesnetwork.org/cms/namdc
Information
| Author | RDCRN |
| Website | - |
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