Novel mutation (R192C) in CYB5R3 gene causing NADH-cytochrome b5 reductase deficiency in eight Indian patients associated with autosomal recessive congenital methemoglobinemia type-I
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DOI: 10.1080/10245332.2018.1444920
Abstract: ABSTRACT Objective: To investigate the cause of recessive congenital methemoglobinemia (RCM) in Indian families and to identify molecular defect associated with RCM. Methods: Eight cases of RCM have been addressed to our laboratory in order… read more here.
Keywords: recessive congenital; cyb5r3 gene; congenital methemoglobinemia; mutation ... See more keywords