A homozygous variant in RRM2B is associated with severe metabolic acidosis and early neonatal death
Penque BA, Su L, Wang J, Ji W, Bale A, Luh F, Fulbright RK, Sarmast U, Sega AG, Konstantino M, Spencer-Manzon M, Pierce R, Yen Y, Lakhani SA. A homozygous variant in RRM2B is associated with severe metabolic acidosis and early neonatal death. European Journal Of Medical Genetics 2018, 62: 103574. PMID: 30439532, DOI: 10.1016/j.ejmg.2018.11.008.Peer-Reviewed Original ResearchMeSH KeywordsAcidosisCell Cycle ProteinsCrystallography, X-RayFemaleHomozygoteHumansInfantInfant, NewbornMaleMutationPerinatal DeathPregnancyProtein ConformationRibonucleotide Reductases