Associated Papers
Identification of High-Risk Single Nucleotide Polymorphisms in the Human CYB5R3 Gene Responsible for Recessive Congenital Methemoglobinemia: A Computational Approach.
Bouatrous E et al.
Molecular Syndromology, 2023
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
Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer.
Zeng B et al.
Frontiers in Oncology, 2021
33889545 (PubMed )
Supplement: Table_5.XLSX › Sheet1
Mutation update: Variants of the CYB5R3 gene in recessive congenital methemoglobinemia.
Gupta V et al.
Human Mutation, 2020
Recessive congenital methemoglobinemia type II: Hypoplastic basal ganglia in two siblings with a novel mutation of the cytochrome b5 reductase gene.
Nicolas-Jilwan M
The Neuroradiology Journal, 2019
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
Recessive hereditary methaemoglobinaemia, type II: delineation of the clinical spectrum.
Ewenczyk C et al.
Brain : a Journal of Neurology, 2008
Molecular basis of recessive congenital methemoglobinemia, types I and II: Exon skipping and three novel missense mutations in the NADH-cytochrome b5 reductase (diaphorase 1) gene.
Kugler W et al.
Human Mutation, 2001
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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