Analysis of publicly available LDLR, APOB, and PCSK9 variants associated with familial hypercholeste...
Analysis of publicly available LDLR, APOB, and PCSK9 variants associated with familial hypercholesterolemia: application of ACMG guidelines and implications for familial hypercholesterolemia diagnosis
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Full title
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Publisher
New York: Nature Publishing Group US
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Language
English
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New York: Nature Publishing Group US
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Contents
Purpose
Familial hypercholesterolemia (FH) is an autosomal disorder of lipid metabolism presenting with increased cardiovascular risk. Although more than 1,700 variants have been associated with FH, the great majority have not been functionally proved to affect the low-density lipoprotein receptor cycle. We aimed to classify all described varian...
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Full title
Analysis of publicly available LDLR, APOB, and PCSK9 variants associated with familial hypercholesterolemia: application of ACMG guidelines and implications for familial hypercholesterolemia diagnosis
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TN_cdi_proquest_miscellaneous_1979169211
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1979169211
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ISSN
1098-3600
E-ISSN
1530-0366
DOI
10.1038/gim.2017.151
