Unravelling the genetic background in individuals with Familial Hypercholesterolemia phenotype
Aim: Genetic diagnosis is the only method to correctly identify patients with Familial hypercholesterolemia (FH) but 40%–50% of these individuals do not have a causative variant in LDLR, APOB and PCSK9 genes. In this work, we aim to characterize the genetic background of individuals with FH phenotyp...
Autor principal: | |
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Outros Autores: | , |
Formato: | conferenceObject |
Idioma: | eng |
Publicado em: |
2021
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Assuntos: | |
Texto completo: | http://hdl.handle.net/10400.18/7714 |
País: | Portugal |
Oai: | oai:repositorio.insa.pt:10400.18/7714 |