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Hematology Volume 23, 2018 - Issue 8
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Hemolytic Anemia

Novel mutation (R192C) in CYB5R3 gene causing NADH-cytochrome b5 reductase deficiency in eight Indian patients associated with autosomal recessive congenital methemoglobinemia type-I

Prabhakar S. KedarNational Institute of Immunohematology, Indian Council of Medical Research, Mumbai, IndiaCorrespondence[email protected]
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,
Vinod GuptaNational Institute of Immunohematology, Indian Council of Medical Research, Mumbai, IndiaORCID Iconhttp://orcid.org/0000-0002-2400-014XView further author information
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Prashant WarangNational Institute of Immunohematology, Indian Council of Medical Research, Mumbai, IndiaView further author information
,
Ashish ChiddarwarNational Institute of Immunohematology, Indian Council of Medical Research, Mumbai, IndiaView further author information
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Manisha MadkaikarNational Institute of Immunohematology, Indian Council of Medical Research, Mumbai, IndiaView further author information
Pages 567-573 | Published online: 27 Feb 2018

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Abdulrahman Al-Abdulmalek, Reem Al-Sulaiman, Mohammad Abu-Tineh & Mohamed A Yassin. (2023) 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 14, pages 247-251.
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Articles from other publishers (9)

Asmat Ullah, Abid Ali Shah, Fibhaa Syed, Arif Mahmood, Hassan Ur Rehman, Beenish Khurshid, Abdus Samad, Wasim Ahmad & Sulman Basit. (2023) Molecular Dynamic Simulation Analysis of a Novel Missense Variant in CYB5R3 Gene in Patients with Methemoglobinemia. Medicina 59:2, pages 379.
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Juan Liang & Xiao-Jun Xu. (2023) Methemoglobinemia Induced by Trimethoprim-Sulfamethoxazole in a Boy With Acute Lymphoblastic Leukemia. Clinical Pediatrics, pages 000992282311528.
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Reyhane Khademi, Zahra Mohammadi, Rahele Khademi, Amene Saghazadeh & Nima Rezaei. (2023) Nanotechnology-based diagnostics and therapeutics in acute lymphoblastic leukemia: a systematic review of preclinical studies. Nanoscale Advances 5:3, pages 571-595.
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Jared A. Jaffey & Kathryn L. Wycislo. (2023) 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, pages 1-8.
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D. Molina Herranz, C. García Escudero, S. Rite Gracia, Y. Aguilar de la Red, J. Martínez Nieto, S. Izquierdo Álvarez, M.A. Montañés Gracia, V. Recasens & C.F. Hernández Mata. (2022) CYB5R3 homozygous pathogenic variant as a rare cause of cyanosis in the newborn. Clinical Biochemistry 102, pages 67-70.
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J. A. Jaffey, N. S. Reading, O. Abdulmalik, R. Kreisler, G. Bullock, A. Wiest, N. A. Villani, T. Mhlanga-Mutangadura, G. S. Johnson, L. A. Cohn, N. Isaza, J. W. Harvey & U. Giger. (2020) Clinical, metabolic, and molecular genetic characterization of hereditary methemoglobinemia caused by cytochrome b5 reductase deficiency in 30 dogs. Scientific Reports 10:1.
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Vinod Gupta, Anuja Kulkarni, Prashant Warang, Rati Devendra, Ashish Chiddarwar & Prabhakar Kedar. (2020) Mutation update: Variants of the CYB5R3 gene in recessive congenital methemoglobinemia. Human Mutation 41:4, pages 737-748.
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Jing Yuan & Xue-Ping Zhu. (2020) Clinical characteristics on manifestation and gene mutation of a transient neonatal cyanosis: A case report. World Journal of Clinical Cases 8:1, pages 217-221.
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Jared A. Jaffey, N. Scott Reading, Urs Giger, Osheiza Abdulmalik, Ruben M. Buckley, Sophie Johnstone & Leslie A. Lyons. (2019) Clinical, metabolic, and genetic characterization of hereditary methemoglobinemia caused by cytochrome b 5 reductase deficiency in cats . Journal of Veterinary Internal Medicine 33:6, pages 2725-2731.
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