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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Detalhes bibliográficos
Autor principal: Rita Chora, Joana (author)
Outros Autores: 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)
Formato: conferenceObject
Idioma:eng
Publicado em: 2019
Assuntos:
Familial Hypercholesterolemia
Doenças Cardio e Cérebro-vasculares
Texto completo:http://hdl.handle.net/10400.18/5929
País:Portugal
Oai:oai:repositorio.insa.pt:10400.18/5929

Texto Completo

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

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