| 1 | CYB5R3, CYB5R3D
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| Mutation update: Variants of the CYB5R3 gene in recessive congenital methemoglobinemia.
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| Gupta V, Kulkarni A, Warang P, Devendra R, Chiddarwar A, Kedar P.
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| Hum Mutat. Apr;41(4):737-748. doi: 10.1002/humu.23973. Epub 2020 Jan 30 2020
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| 2 | CYB5R3, CYB5R3D
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| Recessive congenital methemoglobinemia type II: Hypoplastic basal ganglia in two siblings with a novel mutation of the cytochrome b5 reductase gene.
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| Nicolas-Jilwan M.
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| Neuroradiol J Apr;32(2):143-147. doi: 10.1177/1971400918822153. Epub 2019 Jan 7 2019
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| 3 | CYB5R3, CYB5R3D
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| Congenital methemoglobinemia type II in a 5-year-old boy.
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| Mannino EA, Pluim T, Wessler J, Cho MT, Juusola J, Schrier Vergano SA.
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| Clin Case Rep. Dec 7;6(1):170-178. doi: 10.1002/ccr3.1310. eCollection 2018 Jan. 2017
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| 4 | CYB5R3, CYB5R3D
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| Congenital Recessive Methemoglobinemia Revealed in Adulthood: Description of a New Mutation in Cytochrome b5 Reductase Gene.
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| Forestier A, Pissard S, Cretet J, Mambie A, Pascal L, Cliquennois M, Cambier N, Rose C.
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| Hemoglobin 39(6):438-41. doi: 10.3109/03630269.2015.1065882. Epub 2015 Jul 31 2015
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| 5 | CYB5R3, CYB5R3D
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| A novel L218P mutation in NADH-cytochrome b5 reductase associated with type I recessive congenital methemoglobinemia.
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| Arikoglu T, Yarali N, Kara A, Bay A, Bozkaya IO, Tunc B, Percy MJ.
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| Pediatr Hematol Oncol 26(5):381-5.PMID: 19579085 2009
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| 6 | CYB5R3, CYB5R3D
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| Recessive hereditary methaemoglobinaemia, type II: delineation of the clinical spectrum.
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| Ewenczyk C, Leroux A, Roubergue A, Laugel V, Afenjar A, Saudubray JM, Beauvais P, Billette de Villemeur T, Vidailhet M, Roze E.
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| Brain 131(Pt 3):760-1. Epub 2008 Jan 17. Review.PMID: 18202104 2008
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| 7 | CYB5R3, CYB5R3D
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| NADH-cytochrome b5 reductase in a Turkish family with recessive congenital methaemoglobinaemia type I.
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| Percy MJ, Aslan D.
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| J Clin Pathol 61(10):1122-3.PMID: 18820099 2008
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| 8 | CYB5R3, CYB5R3D
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| A novel G143D mutation in the NADH-cytochrome b5 reductase gene in an Indian patient with type I recessive hereditary methemoglobinemia.
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| Kedar PS, Warang P, Nadkarni AH, Colah RB, Ghosh K.
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| Blood Cells Mol Dis 40(3):323-7. Epub 2007 Oct 25.PMID: 17964195 2008
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| 9 | CYB5R3, CYB5R3D
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| Recessive hereditary methemoglobinemia: two novel mutations in the NADH-cytochrome b5 reductase gene.
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| Fermo E, Bianchi P, Vercellati C, Marcello AP, Garatti M, Marangoni O, Barcellini W, Zanella A.
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| Blood Cells Mol Dis 41(1):50-5. Epub 2008 Mar 17.PMID: 18343696 2008
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| 10 | CYB5R3, CYB5R3D
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| Recessive congenital methaemoglobinaemia: functional characterization of the novel D239G mutation in the NADH-binding lobe of cytochrome b5 reductase.
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| Percy MJ, Crowley LJ, Davis CA, McMullin MF, Savage G, Hughes J, McMahon C, Quinn RJ, Smith O, Barber MJ, Lappin TR.
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| Br J Haematol 129(6):847-53. 2005
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| 11 | CYB5R3, CYB5R3D
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| A case of methemoglobinemia type II due to NADH-cytochrome b5 reductase deficiency: determination of the molecular basis.
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| Aalfs CM, Salieb-Beugelaar GB, Wanders RJ, Mannens MM, Wijburg FA.
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| Hum Mutat 16(1):18-22. 2000
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| 12 | CYB5R3, CYB5R3D
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| Identification of a novel point mutation (Leu72Pro) in the NADH-cytochrome b5 reductase gene of a patient with hereditary methaemoglobinaemia type I.
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| Wu YS, et al.
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| Br J Haematol 102 : 575-577. 1998
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| 13 | CYB5R3, CYB5R3D
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| Molecular basis of hereditary methaemoglobinaemia, types I and II: two novel mutations in the NADH-cytochrome b5 reductase gene.
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| Higasa K, et al.
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| Br J Haematol 103(4):922-30. 1998
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| 14 | CYB5R3, CYB5R3D
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| Recessive congenital methaemoglobinaemia type II, a new mutation which causes incorrect splicing in the NADH-cytochrome b reductase gene.
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| Owen EP, Berens J, Marinaki AM, Ipp H, Harley EH.
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| J Inherit Metab Dis 20(4):610. 1997
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| 15 | CYB5R3, CYB5R3D
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| Two novel mutations in the reduced nicotinamide adenine dinucleotide (NADH)-cytochrome b5 reductase gene of a patient with generalized type, hereditary methemoglobinemia.
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| Manabe J, et al.
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| Blood 88 : 3208-3215. 1996
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| 16 | CYB5R3, CYB5R3D
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| Four new mutations in the NADH-cytochrome b5 reductase gene from patients with recessive congenital methemoglobinemia type II.
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| Mota Vieira L, et al.
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| Blood 85 : 2254-2262. 1995
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| 17 | CYB5R3, CYB5R3D
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| A novel point mutation in a 3' splice site of the NADH-cytochrome b5 reductase gene results in immunologically undetectable enzyme and impaired NADH-dependent ascorbate regeneration in cultured fibroblasts of a patient with type II hereditary methemoglobinemia.
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| Shirabe K, et al.
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| Am J Hum Genet 57 : 302-310. 1995
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| 18 | CYB5R3, CYB5R3D
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| An in-frame deletion of codon 298 of the NADH-cytochrome b5 reductase gene results in hereditary methemoglobinemia type II (generalized type).
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| Shirabe K, et al.
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| J Biol Chem 269 : 5952-5957. 1994
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| 19 | CYB5R3, CYB5R3D
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| Enzymatic instability of NADH-cytochrome b5 reductase as a cause of hereditary methemoglobinemia type I (red cell type).
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| Shirabe K, et al.
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| J Biol Chem 267 : 20416-20421. 1992
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| 20 | CYB5R3, CYB5R3D
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| Exonic point mutations in NADH-cytochrome B5 reductase genes of homozygotes for hereditary methemoglobinemia, types I and III : putative mechanisms of tissue-dependent enzyme deficiency.
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| Katsube T, et al.
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| Am J Hum Genet 48 : 799-808. 1991
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| 21 | CYB5R3, CYB5R3D
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| Serine-proline replacement at residue 127 of NADH-cytochrome b5 reductase causes hereditary methemoglobinemia, generalized type.
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| Kobayashi Y, et al.
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| Blood 75 : 1408-1413. 1990
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| 22 | CYB5R3, CYB5R3D
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| Generalised deficiency of cytochrome b5 reductase in congenital methaemoglobinemia with mental retardation.
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| Leroux A, et al.
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| Nature 258 : 619-620. 1975
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| 23 | CYB5R3, CYB5R3D
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| Mental retardation in methemoglobinemia due to diaphorase deficiency.
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| Fialkow PJ, et al.
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| N Engl J Med 273 : 840-845. 1965
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| 24 | CYB5R3, CYB5R3D
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| Hereditary deficiency of NADPH 2-methaemoglobin redusctase.
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| Muller J, et al.
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| Acta Med Scand 173 : 243-247. 1963
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