Article
Mutant Enpp1asj mice as a model for generalized arterial calcification of infancy.
Disease models & mechanisms - 1 Sept 2013
Li Qiaoli, Guo Haitao, Chou David W, Berndt Annerose, Sundberg John P, Uitto Jouni
Abstract excerpt
Generalized arterial calcification of infancy (GACI), an autosomal recessive disorder, is characterized by early mineralization of blood vessels, often diagnosed by prenatal ultrasound and usually resulting in demise during the first year of life. It is caused in most cases by mutations in the ENPP1 gene, encoding an enzyme that hydrolyzes ATP to AMP and inorganic pyrophosphate, the latter being a powerful...
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