Recessive congenital methaemoglobinaemia: functional characterization of the novel D239G mutation in the NADH-binding lobe of cytochrome b5 reductase
Author:
Publisher
Wiley
Subject
Hematology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-2141.2005.05526.x/fullpdf
Reference22 articles.
1. The Structure and Biochemistry of NADH-Dependent Cytochrome b5 Reductase Are Now Consistent
2. FAMILIAL IDIOPATHIC METHÆMOGLOBINÆMIA
3. Genetic archaeology and the origins of the Irish population
4. Cytochrome b5 oxidoreductase: expression and characterization of the original familial ideopathic methemoglobinemia mutations E255- and G291D
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1. 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
2. Clinical, metabolic, and molecular genetic characterization of hereditary methemoglobinemia caused by cytochrome b5 reductase deficiency in 30 dogs;Scientific Reports;2020-12
3. Mutation update: Variants of the CYB5R3 gene in recessive congenital methemoglobinemia;Human Mutation;2020-01-30
4. Novel mutation (R192C) in CYB5R3 gene causing NADH-cytochrome b5 reductase deficiency in eight Indian patients associated with autosomal recessive congenital methemoglobinemia type-I;Hematology;2018-02-27
5. Catalogue of inherited disorders found among the Irish Traveller population;Journal of Medical Genetics;2018-01-22
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