
Splice-Site Mutation of Exon 3 Deletion in the Gamma-Glutamyl Carboxylase Gene Causes Inactivation of the Enzyme
Keywords: ER; endoplasmic reticulum; GGCX; gamma-glutamyl carboxylase; MGP; matrix Gla protein; PXE; pseudoxanthoma elasticum; TMD; transmembrane domain; VKCFD; vitamin K-dependent coagulation factors deficiency; VKD; vitamin K-dependent;