A novel G143D mutation in the NADH-cytochrome b5 reductase gene in an Indian patient with type I recessive hereditary methemoglobinemia
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Hematology,Molecular Biology,Molecular Medicine
Reference22 articles.
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2. The enzymatic defect of hereditary methemoglobinemia: diaphorase;Scott;Biochim. Biophys. Acta,1959
3. Generalized deficiency of cytochrome b5 reductase in congenital methemoglobinemia with mental retardation;Leroux;Nature,1975
4. Disorders of oxidized hemoglobin;Percy;Blood Rev.,2005
5. Expression of a novel P275L variant of NADH:cytochrome b5 reductase gives functional insight into the conserved motif important for pyridine nucleotide binding;Percy;Arch. Biochem. Biophys.,2006
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1. Congenital Methemoglobinemia: First Confirmed Case in the Arab Population with a Novel Variant in the CYB5R Gene in the State of Qatar: A Case Report;Journal of Blood Medicine;2023-03
2. Inflammatory phenotype, clinicopathologic variables, and effects of long-term methylene blue in dogs with hereditary methemoglobinemia caused by cytochrome b5 reductase deficiency;American Journal of Veterinary Research;2023-01-19
3. Identification of High-Risk Single Nucleotide Polymorphisms in the Human CYB5R3 Gene Responsible for Recessive Congenital Methemoglobinemia: A Computational Approach;Molecular Syndromology;2023
4. Mutation update: Variants of the CYB5R3 gene in recessive congenital methemoglobinemia;Human Mutation;2020-01-30
5. Clinical spectrum and molecular basis of recessive congenital methemoglobinemia in India;Clinical Genetics;2013-12-20
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