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Reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondrial adenylate kinase 2

Pannicke et al. (2009) Nature Genetics 41: 101–105

Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness

Lagresle-Peyrou et al. (2009)

Nature Genetics 41: 106-111