Diversity and Function of Mutations in P450 Oxidoreductase in Patients with Antley-Bixler Syndrome and Disordered Steroidogenesis

P450 oxidoreductase (POR) is the obligatory flavoprotein intermediate that transfers electrons from reduced nicotinamide adenine dinucleotide phosphate (NADPH) to all microsomal cytochrome P450 enzymes. Although mouse Por gene ablation causes embryonic lethality, POR missense mutations cause disorde...

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Autori principali: Huang, Ningwu, Pandey, Amit V., Agrawal, Vishal, Reardon, William, Lapunzina, Pablo D., Mowat, David, Jabs, Ethylin Wang, Vliet, Guy Van, Sack, Joseph, Flück, Christa E., Miller, Walter L.
Natura: Artigo
Lingua:Inglês
Pubblicazione: The American Society of Human Genetics 2005
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1199364/
https://ncbi.nlm.nih.gov/pubmed/15793702
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