Prenatal diagnosis of recessive congenital methaemoglobinaemia type II: novel mutation in the NADH-cytochrome b5 reductase gene leading to stop codon read-through
Author:
Publisher
Wiley
Subject
Hematology,General Medicine
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1600-0609.2004.00388.x/fullpdf
Reference27 articles.
1. Purification and Properties of Rat Liver Microsomal Stearyl Coenzyme A Desaturase
2. Evidence for the participation of cytochrome b5 in hepatic microsomal mixed-function oxidation reactions
3. Behaviour of Single Wood Fibres under Axial Tensile Strain
4. Soluble and microsomal forms of NADH-cytochrome b5 reductase from human placenta Similarity with NADH-methemoglobin reductase from human erythrocytes
5. Soluble NADH-cytochrome b5 reductase from rabbit liver cytosol: Partial purification and characterization
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