Article
Variable patterns of ectopic mineralization in Enpp1asj-2J mice, a model for generalized arterial calcification of infancy.
Oncotarget - 20 Dec 2016
Siu Sarah Y, Dyment Nathaniel A, Rowe David W, Sundberg John P, Uitto Jouni, Li Qiaoli
Abstract excerpt
Generalized arterial calcification of infancy (GACI) is an autosomal recessive disorder characterized by early onset of extensive mineralization of the cardiovascular system. The classical forms of GACI are caused by mutations in the ENPP1 gene, encoding a membrane-bound pyrophosphatase/phosphodiesterase that hydrolyzes ATP to AMP and inorganic pyrophosphate. The asj-2J mouse harboring a spontaneous mutation in...
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