Leiden University Scholarly Publications

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Constitutional microsatellite instability, genotype, and phenotype correlations in constitutional mismatch repair deficiency
High yield of surveillance in patients diagnosed with constitutional mismatch repair deficiency
Repertoire Sequencing of B Cells Elucidates the Role of UNG and Mismatch Repair Proteins in Somatic Hypermutation in Humans
A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes
No Overt Clinical Immunodeficiency Despite Immune Biological Abnormalities in Patients With Constitutional Mismatch Repair Deficiency
No clinical signs of Hyper-IgM or other relevant primary immunodeficiency syndrome in novel patients with constitutional mismatch repair deficiency (CMMRD)