Consequences of POR mutations and polymorphisms

P450 oxidoreductase (POR) transports electrons from NADPH to all microsomal cytochrome P450 enzymes, including steroidogenic P450c17, P450c21 and P450aro. Severe POR mutations A287P (in Europeans) and R457H (in Japanese) cause the Antley-Bixler skeletal malformation syndrome (ABS) plus impaired ster...

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Publicat a:Mol Cell Endocrinol
Autors principals: Miller, Walter L., Agrawal, Vishal, Sandee, Duanpen, Tee, Meng Kian, Huang, Ningwu, Choi, Ji Ha, Morrissey, Kari, Giacomini, Kathleen M.
Format: Artigo
Idioma:Inglês
Publicat: 2010
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4632974/
https://ncbi.nlm.nih.gov/pubmed/21070833
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.mce.2010.10.022
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