The R1141X loss-of-function mutation of the ABCC6 gene is a strong genetic risk factor for coronary...
The R1141X loss-of-function mutation of the ABCC6 gene is a strong genetic risk factor for coronary artery disease
About this item
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Author / Creator
Publisher
United States: Mary Ann Liebert, Inc
Journal title
Language
English
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Publication information
Publisher
United States: Mary Ann Liebert, Inc
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Scope and Contents
Contents
Loss-of-function mutations of ABCC6 cause pseudoxanthoma elasticum (PXE). This Mendelian disorder is characterized by elastic calcification leading to dermal, ocular, and cardiovascular symptoms like coronary artery disease (CAD) and stroke. Although PXE is a recessive disease, microscopic dermal lesions, serum alterations, and higher anecdotal inc...
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Full title
The R1141X loss-of-function mutation of the ABCC6 gene is a strong genetic risk factor for coronary artery disease
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Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_2935842
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_2935842
Other Identifiers
ISSN
1945-0265
E-ISSN
1945-0257
DOI
10.1089/gtmb.2009.0094
