https://www.selleckchem.com/pr....oducts/skf38393-hcl.
Introduction Pseudoxanthoma elasticum (PXE), an ectopic mineralization disorder caused by pathogenic ABCC6 variants, is characterized by skin, ocular and cardiovascular (CV) symptoms. Due to striking phenotypic variability without genotype-phenotype correlations, modifier genes are thought to play a role in disease variability. In this study, we evaluated the collective modifying effect of rare variants on the cardiovascular phenotype of PXE. Materials and Methods Mixed effects of rare variants were assessed by Whole Exome Sequenci
Мне нравится
Комментарий
Перепост
