Associated Papers
The common P450 oxidoreductase variant A503V is not a modifier gene for 21-hydroxylase deficiency.
Gomes LG et al.
The Journal of Clinical Endocrinology and Metabolism, 2008
Genetic and functional analyses of membrane cofactor protein (CD46) mutations in atypical hemolytic uremic syndrome.
Fremeaux-Bacchi V et al.
Journal of the American Society of Nephrology : Jasn, 2006
Human phytanoyl-CoA hydroxylase: resolution of the gene structure and the molecular basis of Refsum's disease.
Jansen GA et al.
Human Molecular Genetics, 2000
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