Specification of ACMG/AMP variant classification guidelines for Familial Hypercholesterolemia – a ClinGen FH Variant Curation Committee Pilot Study

Familial hypercholesterolemia (FH) is a common autosomal dominant disorder (~1:250 individuals affected) of lipid metabolism, associated with an increased risk of cardiovascular disease. Individuals with FH characteristically present with severely elevated blood cholesterol levels, which leads to at...

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Detalhes bibliográficos
Autor principal: Kurtz, C. Lisa (author)
Outros Autores: Carrie, Alain (author), Chora, Joana R. (author), Iacocca, Michael (author), Leigh, Sarah (author), Freiberger, Tomas (author), Tichy, Lukas (author), Defesche, Joep (author), Hegele, Robert (author), Sijbrands, Eric (author), Knowles, Josh (author), Bourbon, Mafalda (author)
Formato: conferenceObject
Idioma:eng
Publicado em: 2019
Assuntos:
Familial Hypercholesterolemia
Doenças Cardio e Cérebro-vasculares
Texto completo:http://hdl.handle.net/10400.18/6044
País:Portugal
Oai:oai:repositorio.insa.pt:10400.18/6044

Texto Completo

http://hdl.handle.net/10400.18/6044

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