A novel mutation in the NADH-cytochrome b5 reductase gene of a Chinese patient with recessive congenital methemoglobinemia.

@article{Wang2000ANM,
  title={A novel mutation in the NADH-cytochrome b5 reductase gene of a Chinese patient with recessive congenital methemoglobinemia.},
  author={Y. Wang and Y. Wu and P. Zheng and W. Yang and G. Fang and Y. Tang and F. Xie and F. Lan and Z. Zhu},
  journal={Blood},
  year={2000},
  volume={95 10},
  pages={
          3250-5
        }
}
Recessive congenital methemoglobinemia due to nicotinamide adenine dinucleotide (NADH)-cytochrome b5 reductase (b5R) deficiency is classified into 2 clinical types: type 1 (erythrocyte type) and type 2 (generalized type). We found a Chinese family with type 1 recessive congenital methemoglobinemia, the patients from which were diagnosed according to clinical symptoms and b5R enzyme activity in the blood cells. To learn the molecular basis of type 1 recessive congenital methemoglobinemia in this… Expand
Recessive hereditary methemoglobinemia: two novel mutations in the NADH-cytochrome b5 reductase gene.
Recessive congenital methaemoglobinaemia: cytochrome b5 reductase deficiency
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