The FH phenotype: monogenic familial hypercholesterolaemia, polygenic dyslipidaemia and other causes
Familial hypercholesterolaemia (FH) is a monogenic autosomal condition where patients present very high LDL-C values and an increase cardiovascular risk. FH is caused by mutations in 3 genes: LDLR, APOB and PCSK9. However in only about 40%-50% of the cases an FH causing mutation is found. The FH phe...
Autor principal: | |
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Outros Autores: | , , , , , |
Formato: | conferenceObject |
Idioma: | eng |
Publicado em: |
2018
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Assuntos: | |
Texto completo: | http://hdl.handle.net/10400.18/5171 |
País: | Portugal |
Oai: | oai:repositorio.insa.pt:10400.18/5171 |