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Three novel mutations in CYB5R3 gene causing NADH-cytochrome b5 reductase enzyme deficiency leads to recessive congenital methaemoglobinemia.
Deorukhkar, Anuradha; Kulkarni, Anuja; Kedar, Prabhakar.
Affiliation
  • Deorukhkar A; Department of Haematogenetics, ICMR-National Institute of Immunohaematology, Indian Council of Medical Research, 13th Floor, New Multi-Storeyed Building, King Edward Memorial (KEM.) Hospital Campus, Parel, Mumbai, 400012, India.
  • Kulkarni A; Department of Haematogenetics, ICMR-National Institute of Immunohaematology, Indian Council of Medical Research, 13th Floor, New Multi-Storeyed Building, King Edward Memorial (KEM.) Hospital Campus, Parel, Mumbai, 400012, India.
  • Kedar P; Department of Haematogenetics, ICMR-National Institute of Immunohaematology, Indian Council of Medical Research, 13th Floor, New Multi-Storeyed Building, King Edward Memorial (KEM.) Hospital Campus, Parel, Mumbai, 400012, India. kedarps2002@yahoo.com.
Mol Biol Rep ; 49(3): 2141-2147, 2022 Mar.
Article in En | MEDLINE | ID: mdl-35064402
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cytochrome-B(5) Reductase / Methemoglobinemia / Mutation Type of study: Diagnostic_studies / Prognostic_studies Limits: Humans Language: En Journal: Mol Biol Rep Year: 2022 Document type: Article Affiliation country: Country of publication:
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cytochrome-B(5) Reductase / Methemoglobinemia / Mutation Type of study: Diagnostic_studies / Prognostic_studies Limits: Humans Language: En Journal: Mol Biol Rep Year: 2022 Document type: Article Affiliation country: Country of publication: