Mutation update: Variants of the CYB5R3 gene in recessive congenital methemoglobinemia
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DOI: 10.1002/humu.23973
Abstract: 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… read more here.
Keywords: update variants; recessive congenital; mutation update; congenital methemoglobinemia ... See more keywords