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Article

Molecular basis of two novel mutations found in type I methemoglobinemia.

Blood cells, molecules & diseases - 15 Apr 2011

Lorenzo Felipe R, Phillips John D, Nussenzveig Roberto, Lingam Bindu, Koul Parvaiz A, Schrier Stanley L, Prchal Josef T

Abstract excerpt

Congenital methemoglobinemia due to NADH-cytochrome b5 reductase 3 (CYB5R3) deficiency is an autosomal recessive disorder that occurs sporadically worldwide, although endemic clusters of this disorder have been identified in certain ethnic groups. It is present as two distinct phenotypes, type I and type II. Type I methemoglobinemia is characterized by CYB5R3 enzyme deficiency restricted to erythrocytes and is...

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Identifiers

PMID: 21349748
DOI: 10.1016/j.bcmd.2011.01.005
PMCID: PMC3075332

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