Molecular BiologyNature CommunicationsPeer-reviewed
Bi-allelic MCM10 mutations cause telomere shortening with immune dysfunction and cardiomyopathy
Ryan M. Baxley, Wendy Leung, Megan Schmit…·Anja‐Katrin Bielinsky
This study identifies bi-allelic MCM10 mutations causing telomere shortening, immune dysfunction, and cardiomyopathy by impairing DNA replication and telomerase activity.
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