Associated Papers
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
Mutation update: Variants of the CYB5R3 gene in recessive congenital methemoglobinemia.
Gupta V et al.
Human Mutation, 2020
Novel mutation (R192C) in CYB5R3 gene causing NADH-cytochrome b5 reductase deficiency in eight Indian patients associated with autosomal recessive congenital methemoglobinemia type-I.
Kedar PS et al.
Hematology (amsterdam, Netherlands), 2018
Clinical spectrum and molecular basis of recessive congenital methemoglobinemia in India.
Warang PP et al.
Clinical Genetics, 2015
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
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
Recessive hereditary methemoglobinemia: two novel mutations in the NADH-cytochrome b5 reductase gene.
Fermo E et al.
Blood Cells, Molecules & Diseases, 0
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