Analysis of Pseudoxanthoma Elasticum–Causing Missense Mutants of ABCC6 In Vivo; Pharmacological Corr...
Analysis of Pseudoxanthoma Elasticum–Causing Missense Mutants of ABCC6 In Vivo; Pharmacological Correction of the Mislocalized Proteins
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United States: Elsevier Inc
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Language
English
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United States: Elsevier Inc
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Contents
Mutations in the ABCC6 gene cause soft-tissue calcification in pseudoxanthoma elasticum (PXE) and, in some patients, generalized arterial calcification of infancy (GACI). PXE is characterized by late onset and progressive mineralization of elastic fibers in dermal, ocular, and cardiovascular tissues. GACI patients present a more severe, often prena...
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Analysis of Pseudoxanthoma Elasticum–Causing Missense Mutants of ABCC6 In Vivo; Pharmacological Correction of the Mislocalized Proteins
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3962510
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3962510
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ISSN
0022-202X
E-ISSN
1523-1747
DOI
10.1038/jid.2013.482
