Publication | Closed Access

Germline NPM1 mutations lead to altered rRNA 2′-O-methylation and cause dyskeratosis congenita

Genetic DisorderMedicineGeneticsDyskeratosis CongenitaNatural SciencesEpigenomicsMolecular BiologyEpigenetic ChangeMolecular GeneticsDisease Gene IdentificationGene ExpressionMolecular DiagnosticsEpigeneticsMutagenesisGermline Npm1 Mutations