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
35203946 (PubMed )
Supplement: brainsci-12-00182-s001.zip › Table_S1.pdf
Uniparental disomy in a population of 32,067 clinical exome trios.
Scuffins J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
33495530 (PubMed )
Supplement: 41436_2020_1092_MOESM1_ESM.pdf
Mutation update: Variants of the CYB5R3 gene in recessive congenital methemoglobinemia.
Gupta V et al.
Human Mutation, 2020
The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results.
Baldridge D et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Recessive congenital methaemoglobinaemia: cytochrome b(5) reductase deficiency.
Percy MJ et al.
British Journal of Haematology, 2008
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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