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
Novel Compound Heterogeneous Mutations in CYB5R3 Gene Leading to Methemoglobinemia (Type I) in a Chinese Boy: Case Report and Relevant Comprehensive Analysis.
Yang Y et al.
Acta Haematologica, 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
Characterization of a novel nicotinamide adenine dinucleotide-cytochrome b5 reductase mutation associated with canine hereditary methemoglobinemia.
Otsuka-Yamasaki Y et al.
The Journal of Veterinary Medical Science, 2021
Mutation update: Variants of the CYB5R3 gene in recessive congenital methemoglobinemia.
Gupta V et al.
Human Mutation, 2020
Cellular and Molecular Mechanisms of Recessive Hereditary Methaemoglobinaemia Type II.
Siendones E et al.
Journal of Clinical Medicine, 2018
Characterization of a novel mutation in the NADH-cytochrome b5 reductase gene responsible for rare hereditary methaemoglobinaemia type I.
Rawa K et al.
Acta Haematologica, 2013
[Novel large deletion c.22-1320_633+1224del in the CYB5R3 gene from patients with hereditary methemoglobinemia].
Galeeva NM et al.
Genetika, 2012
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
Recessive hereditary methemoglobinemia: two novel mutations in the NADH-cytochrome b5 reductase gene.
Fermo E et al.
Blood Cells, Molecules & Diseases, 0
Select a paper to view details