Expression and characterization of disease-causing ABCC6 mutants
ABCC6 is a transmembrane protein primarily expressed in the hepatocytes. ABCC6 facilitates ATP efflux from hepatocytes to the circulation. ATP is hydrolyzed to PPi, an inhibitor of ectopic calcification. Several pathogenic mutations of the ABCC6 gene have been identified as the cause of PXE, an auto...
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Format: | Thesis |
Language: | English |
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2022-05-16
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Online Access: | http://hdl.handle.net/10831/91868?sublib=L_200 |
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