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
Neurological and Neuroimaging Features of CYB5R3-Related Recessive Hereditary Methemoglobinemia Type II.
Nicita F et al.
Brain Sciences, 2022
35203946 (PubMed )
Supplement: brainsci-12-00182-s001.zip › Table_S1.pdf
Mutation update: Variants of the CYB5R3 gene in recessive congenital methemoglobinemia.
Gupta V et al.
Human Mutation, 2020
Clinical spectrum and molecular basis of recessive congenital methemoglobinemia in India.
Warang PP et al.
Clinical Genetics, 2015
Recessive congenital methaemoglobinaemia: cytochrome b(5) reductase deficiency.
Percy MJ et al.
British Journal of Haematology, 2008
Recessive hereditary methaemoglobinaemia, type II: delineation of the clinical spectrum.
Ewenczyk C et al.
Brain : a Journal of Neurology, 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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