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The Purinergic Nature of Pseudoxanthoma Elasticum

2023-12-18

Abstract excerpt

Pseudoxanthoma Elasticum (PXE) is an inherited disease characterized by elastic fibers calcification in the eyes, the skin and the cardiovascular system. PXE results from mutations ABCC6 that encodes an ABC transporter primarily expressed in liver and kidneys. It took nearly 15 years after identifying the gene to better understand the etiology of PXE. the ABCC6 functions facilitates the efflux of ATP (and other nu...

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Literature Corpus work
a4b27fbd-4719-5a22-a2a6-4678ba425589
DOI
10.20944/preprints202312.1233.v1
Open publication

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The Purinergic Nature of Pseudoxanthoma ElasticumDOI 10.20944/preprints202312.1233.v1
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