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SAT-010 Non-Classic POR Deficiency as a Cause of Menstrual Disorders & Infertility
P450 oxidoreductase deficiency (PORD) is an autosomal recessive disease caused by bi-allelic mutations of the POR gene. It is responsible for decreased activity of several P450 enzymes including CYP21A2, CYP17A1 and CYP19A1 that are involved in adrenal and/or gonadal steroidogenesis. PORD is typical...
שמור ב:
| הוצא לאור ב: | J Endocr Soc |
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| Main Authors: | , , , , , , , , , |
| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
Oxford University Press
2020
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| נושאים: | |
| גישה מקוונת: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7209003/ https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jendso/bvaa046.898 |
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