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Mutation update: Variants of the CYB5R3 gene in recessive congenital methemoglobinemia.

Human mutation - 1 Apr 2020

Gupta Vinod, Kulkarni Anuja, Warang Prashant, Devendra Rati, Chiddarwar Ashish, Kedar Prabhakar

Abstract excerpt

NADH-cytochrome b5 reductase 3 deficiency is an important genetic cause of recessive congenital methemoglobinemia (RCM) and occurs worldwide in autosomal recessive inheritance. In this Mutation Update, we provide a comprehensive review of all the pathogenic mutations and their molecular pathology in RCM along with the molecular basis of RCM in 21 new patients from the Indian population, including four novel...

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Identifiers

PMID: 31898843
DOI: 10.1002/humu.23973

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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