https://www.selleckchem.com/products/gdc6036.html
NR5A1 is an essential transcription factor that regulates several target genes involved in reproduction and endocrine function. Pathogenic variants in this gene are responsible for a wide spectrum of disorders/differences of sex development (DSD). The molecular study involved Sanger sequencing, in vitro assays, and whole exome sequencing (WES). Four variants were identified within the NR5A1 non-coding region in 3 patients with 46,XY DSD. In vitro analyses showed that promoter activity was affected in all cases. WES revealed variants in
Like
Comment
Share
