Article

Bi-allelic <i>MCM10</i> mutations cause telomere shortening with immune dysfunction and cardiomyopathy

2019-11-16

Abstract excerpt

<h4>ABSTRACT</h4> Minichromosome maintenance protein 10 (Mcm10) is essential for eukaryotic DNA replication. Here, we describe compound heterozygous MCM10 mutations in patients with distinctive but overlapping clinical phenotypes – natural killer (NK) cell deficiency (NKD) and restrictive cardiomyopathy (RCM) with hypoplasia of the spleen and thymus. To understand the mechanism of Mcm10-associated disease, we mo...

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Literature Corpus work: 42f67650-fc90-5a24-8665-9767866e3cba
DOI: 10.1101/844498

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