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MON-219 In Silico and in Vitro Studies of Human 5α-Reductase Type II Variants in Search for Activating Variants Explaining Androgen Excess Reveal New Loss-Of-Function Variants

Background: Androgens are steroid hormones necessary for human sex development. Testosterone (T) and the more potent dihydrotestosterone (DHT) are maybe the best known androgens, which exert their effect by binding and activating the androgen receptor. Steroid reductases 5α (SRD5As) catalyse the con...

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Detalles Bibliográficos
Autores principales: Katharopoulos, Efstathios, Sauter, Kay, Pandey, Amit, Flueck, Christa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Endocrine Society 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6550614/
http://dx.doi.org/10.1210/js.2019-MON-219