טוען...

Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency

Steroidogenic factor 1 (SF1, NR5A1) is a nuclear receptor that regulates multiple genes involved in adrenal and gonadal development, steroidogenesis, and the reproductive axis. Human mutations in SF1 were initially found in two 46,XY female patients with severe gonadal dysgenesis and primary adrenal...

תיאור מלא

שמור ב:
מידע ביבליוגרפי
Main Authors: Köhler, Birgit, Lin, Lin, Ferraz-de-Souza, Bruno, Wieacker, Peter, Heidemann, Peter, Schröder, Vanessa, Biebermann, Heike, Schnabel, Dirk, Grüters, Annette, Achermann, John C
פורמט: Artigo
שפה:Inglês
יצא לאור: Wiley Subscription Services, Inc., A Wiley Company 2008
נושאים:
גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC2359628/
https://ncbi.nlm.nih.gov/pubmed/17694559
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.20588
תגים: הוספת תג
אין תגיות, היה/י הראשונ/ה לתייג את הרשומה!