Open access
Aug 2026
RC12.3 - LBA_ECE_1400 - Profiling of CYP17A1 mutations defines the molecular basis of partial enzyme deficiencies
To elucidate the pathophysiology of 17-OHD by integrating phenotyping with functional and structural characterization of seven CYP17A1 variants, structural analysis may help predict clinical outcomes and fertility potential in 17-OHD.
Kai-Ge Li, J. Yakubu, Amit V. Pandey
· European Journal of Endocrin... · 0 citations