Compound heterozygosity of the gamma-glutamyl carboxylase mutants V255M and S300F causes pseudoxanthoma elasticum-like disease through impaired processivity
M. A. Rishavy, K. W. Hallgren, K. W. Runge, K. L. Berkner
The paper investigates how compound heterozygosity of gamma-glutamyl carboxylase mutants V255M and S300F causes PXE-like disease by impairing carboxylase processivity.
bioRxiv · Jun 12, 2019Biochemistry