210 related articles for article (PubMed ID: 29482478)
1. Novel mutation (R192C) in CYB5R3 gene causing NADH-cytochrome b5 reductase deficiency in eight Indian patients associated with autosomal recessive congenital methemoglobinemia type-I.
Kedar PS; Gupta V; Warang P; Chiddarwar A; Madkaikar M
Hematology; 2018 Sep; 23(8):567-573. PubMed ID: 29482478
[TBL] [Abstract][Full Text] [Related]
2. Three novel mutations in CYB5R3 gene causing NADH-cytochrome b5 reductase enzyme deficiency leads to recessive congenital methaemoglobinemia.
Deorukhkar A; Kulkarni A; Kedar P
Mol Biol Rep; 2022 Mar; 49(3):2141-2147. PubMed ID: 35064402
[TBL] [Abstract][Full Text] [Related]
3. A novel G143D mutation in the NADH-cytochrome b5 reductase gene in an Indian patient with type I recessive hereditary methemoglobinemia.
Kedar PS; Warang P; Nadkarni AH; Colah RB; Ghosh K
Blood Cells Mol Dis; 2008; 40(3):323-7. PubMed ID: 17964195
[TBL] [Abstract][Full Text] [Related]
4. A novel L218P mutation in NADH-cytochrome b5 reductase associated with type I recessive congenital methemoglobinemia.
Arikoglu T; Yarali N; Kara A; Bay A; Bozkaya IO; Tunc B; Percy MJ
Pediatr Hematol Oncol; 2009; 26(5):381-5. PubMed ID: 19579085
[TBL] [Abstract][Full Text] [Related]
5. Clinical spectrum and molecular basis of recessive congenital methemoglobinemia in India.
Warang PP; Kedar PS; Shanmukaiah C; Ghosh K; Colah RB
Clin Genet; 2015; 87(1):62-7. PubMed ID: 24266649
[TBL] [Abstract][Full Text] [Related]
6. Molecular Dynamic Simulation Analysis of a Novel Missense Variant in
Ullah A; Shah AA; Syed F; Mahmood A; Ur Rehman H; Khurshid B; Samad A; Ahmad W; Basit S
Medicina (Kaunas); 2023 Feb; 59(2):. PubMed ID: 36837579
[No Abstract] [Full Text] [Related]
7. Congenital methemoglobinemia due to NADH-methemoglobin reductase deficiency in three Indian families.
Kedar PS; Colah RB; Ghosh K; Mohanty D
Haematologia (Budap); 2002; 32(4):543-9. PubMed ID: 12803131
[TBL] [Abstract][Full Text] [Related]
8. Four new mutations in the NADH-cytochrome b5 reductase gene from patients with recessive congenital methemoglobinemia type II.
Vieira LM; Kaplan JC; Kahn A; Leroux A
Blood; 1995 Apr; 85(8):2254-62. PubMed ID: 7718898
[TBL] [Abstract][Full Text] [Related]
9. Mutation update: Variants of the CYB5R3 gene in recessive congenital methemoglobinemia.
Gupta V; Kulkarni A; Warang P; Devendra R; Chiddarwar A; Kedar P
Hum Mutat; 2020 Apr; 41(4):737-748. PubMed ID: 31898843
[TBL] [Abstract][Full Text] [Related]
10. Familial Congenital Methemoglobinemia in Pomeranian Dogs Caused by a Missense Variant in the NADH-Cytochrome B5 Reductase Gene.
Shino H; Otsuka-Yamasaki Y; Sato T; Ooi K; Inanami O; Sato R; Yamasaki M
J Vet Intern Med; 2018 Jan; 32(1):165-171. PubMed ID: 29356095
[TBL] [Abstract][Full Text] [Related]
11. Identification and characterization of the novel FAD-binding lobe G75S mutation in cytochrome b(5) reductase: an aid to determine recessive congenital methemoglobinemia status in an infant.
Percy MJ; Crowley LJ; Roper D; Vulliamy TJ; Layton DM; Barber MJ
Blood Cells Mol Dis; 2006; 36(1):81-90. PubMed ID: 16310381
[TBL] [Abstract][Full Text] [Related]
12. Congenital methaemoglobinaemia Type I in a Turkish infant due to a novel mutation, Pro144Ser, in NADH-cytochrome b5 reductase.
Percy MJ; Oren H; Savage G; Irken G
Hematol J; 2004; 5(4):367-70. PubMed ID: 15297856
[TBL] [Abstract][Full Text] [Related]
13. Congenital Recessive Methemoglobinemia Revealed in Adulthood: Description of a New Mutation in Cytochrome b5 Reductase Gene.
Forestier A; Pissard S; Cretet J; Mambie A; Pascal L; Cliquennois M; Cambier N; Rose C
Hemoglobin; 2015; 39(6):438-41. PubMed ID: 26291966
[TBL] [Abstract][Full Text] [Related]
14. A microplate reader-based method to quantify NADH-cytochrome b5 reductase activity for diagnosis of recessive congenital methaemoglobinemia.
Kedar P; Desai A; Warang P; Colah R
Hematology; 2017 May; 22(4):252-257. PubMed ID: 27863456
[TBL] [Abstract][Full Text] [Related]
15. Recessive congenital methaemoglobinaemia: functional characterization of the novel D239G mutation in the NADH-binding lobe of cytochrome b5 reductase.
Percy MJ; Crowley LJ; Davis CA; McMullin MF; Savage G; Hughes J; McMahon C; Quinn RJ; Smith O; Barber MJ; Lappin TR
Br J Haematol; 2005 Jun; 129(6):847-53. PubMed ID: 15953014
[TBL] [Abstract][Full Text] [Related]
16. Cytochrome b5 reductase: the roles of the recessive congenital methemoglobinemia mutants P144L, L148P, and R159*.
Davis CA; Crowley LJ; Barber MJ
Arch Biochem Biophys; 2004 Nov; 431(2):233-44. PubMed ID: 15488472
[TBL] [Abstract][Full Text] [Related]
17. NADH-cytochrome b5 reductase in a Turkish family with recessive congenital methaemoglobinaemia type I.
Percy MJ; Aslan D
J Clin Pathol; 2008 Oct; 61(10):1122-3. PubMed ID: 18820099
[TBL] [Abstract][Full Text] [Related]
18. Recessive hereditary methemoglobinemia: two novel mutations in the NADH-cytochrome b5 reductase gene.
Fermo E; Bianchi P; Vercellati C; Marcello AP; Garatti M; Marangoni O; Barcellini W; Zanella A
Blood Cells Mol Dis; 2008; 41(1):50-5. PubMed ID: 18343696
[TBL] [Abstract][Full Text] [Related]
19. [Population frequency and age of c.806C > T mutation in CYB5R3 gene as cause of recessive congenital methemoglobinemia in Yakutia].
Galeeva NM; Voevoda MI; Spiridonova MG; Stepanov VA; Poliakov AV
Genetika; 2013 Apr; 49(4):523-30. PubMed ID: 23866629
[TBL] [Abstract][Full Text] [Related]
20. Molecular basis of two novel mutations found in type I methemoglobinemia.
Lorenzo FR; Phillips JD; Nussenzveig R; Lingam B; Koul PA; Schrier SL; Prchal JT
Blood Cells Mol Dis; 2011 Apr; 46(4):277-81. PubMed ID: 21349748
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
