hemeonclinx Medical News about Recessive hereditary methemoglobinemia; novel mutations in the NADH-cytochrome b5 reductase gene

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Recessive hereditary methemoglobinemia; novel mutations in the NADH-cytochrome b5 reductase gene

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Recessive hereditary methemoglobinemia: Two novel mutations in the NADH-cytochrome b5 reductase gene
Blood Cells, Molecules, and Diseases, 06/23/08

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Free Abstract

Fermo E et al. - Eight different mutations were detected among the twelve mutated alleles identified, one splicing mutation, two stop codon, and five missense. Two mutations c. 82 C>T(Gln27STOP) and c. 136 C>T(Arg45Trp) are new. Prenatal diagnosis was performed in the family with Type-II disease.

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