Associated Papers
A novel stoploss mutation CYB5R3 c.906A>G(p.*302Trpext*42) involved in the pathogenesis of hereditary methemoglobinemia.
He KY et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2025
Mutation update: Variants of the CYB5R3 gene in recessive congenital methemoglobinemia.
Gupta V et al.
Human Mutation, 2020
Methemoglobin reductase deficiency: novel mutation is associated with a disease phenotype of intermediate severity.
Percy MJ et al.
Journal of Pediatric Hematology/oncology, 2012
Recessive congenital methaemoglobinaemia: cytochrome b(5) reductase deficiency.
Percy MJ et al.
British Journal of Haematology, 2008
A case of methemoglobinemia type II due to NADH-cytochrome b5 reductase deficiency: determination of the molecular basis.
Aalfs CM et al.
Human Mutation, 2000
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