Human Cytochrome P450 Oxidoreductase Deficiency Caused by the Y181D Mutation: Molecular Consequences and Rescue of Defect

Patients with congenital adrenal hyperplasia, exhibiting combined CYP17 and CYP21 deficiency, were shown by Arlt et al. (2004) to harbor a 541T→G mutation in exon 5 of POR (encoding NADPH-cytochrome P450 reductase, CYPOR), which resulted in a Y181D substitution that obliterated electron transfer cap...

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Bibliografische gegevens
Hoofdauteurs: Marohnic, Christopher C., Panda, Satya P., McCammon, Karen, Rueff, José, Masters, Bettie Sue Siler, Kranendonk, Michel
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: The American Society for Pharmacology and Experimental Therapeutics 2010
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Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2812058/
https://ncbi.nlm.nih.gov/pubmed/19884324
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1124/dmd.109.030445
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