Familial hypercholesterolemia-associated variants submitted to ClinVar: a ClinGen FH effort

Familial hypercholesterolemia (FH) is an autosomal dominant disorder of lipid metabolism characterized by elevated levels of LDL-C and increased cardiovascular risk. A vast number of potentially pathogenic variants have been identified in FH patients in LDLR, APOB, and PCSK9 genes. We sought to enco...

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Bibliographic Details
Main Author: Rita Chora, Joana (author)
Other Authors: Iacocca, Michael A. (author), DiStefano, Marina T. (author), Carrie, Alain (author), Freiberger, Tomas (author), Leigh, Sarah E. (author), Kurtz, C. Lisa (author), Defesche, Joep (author), Sijbrands, Eric J. (author), Hegele, Robert A. (author), Knowles, Joshua W. (author), Bourbon, Mafalda (author), on behalf of the ClinGen FH Variant Curation Committee (author)
Format: conferenceObject
Language:eng
Published: 2019
Subjects:
Familial Hypercholesterolemia
Doenças Cardio e Cérebro-vasculares
Online Access:http://hdl.handle.net/10400.18/5929
Country:Portugal
Oai:oai:repositorio.insa.pt:10400.18/5929

Internet

http://hdl.handle.net/10400.18/5929

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