A novel stoploss mutation CYB5R3 c.906A>G(p.*302Trpext*42) involved in the pathogenesis of hereditary methemoglobinemia

2024/08/16 by Kai-Ying He, Kai-ying He, Hongping Yu +17 · 2 citations
Medicine · #Neonatal Health and Biochemistry #Methemoglobinemia and Tumor Lysis Syndrome #Erythrocyte Function and Pathophysiology

paper · doi:10.1016/j.cca.2024.119930

Cited by

• Exercise-induced redox modulation of red blood cell function in health and disease: Mechanistic implications for hemoglobin cycling and microvascular regulation
• Recessive congenital methemoglobinemia: a systematic review of reported cases. [europepmc]