Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.18/5622
Título: Further evidence of novel APOB mutations as a cause of familial hypercholesterolaemia
Autor: Alves, Ana Catarina
Benito-Vicente, Asier
Medeiros, Ana Margarida
Reeves, Kaajal
Martin, Cesar
Bourbon, Mafalda
Palavras-chave: APOB Variants
Familial Hypercholesterolemia
Functional Studies
Doenças Cardio e Cérebro-vasculares
Data: Out-2018
Editora: Elsevier
Citação: Atherosclerosis. 2018 Oct;277:448-456. doi: 10.1016/j.atherosclerosis.2018.06.819.
Resumo: APOB mutations are a rare cause of familial hypercholesterolaemia (FH) and, until recently, routine genetic diagnosis only included the study of two small APOB fragments. In previous years, 5 novel functional mutations have been described in APOB fragments not routinely studied, our group having functionally characterized 2 of them. The main aim of this work was to identify and characterize novel alterations in APOB to assess the genetic cause of hypercholesterolemia in patients with a clinical diagnosis of FH.
Highlights: The spectrum of functional alterations in APOB outside the fragments routinely screened is growing; We characterized two rare novel variants in APOB, p.(Thr3826Met) is pathogenic and p.(Pro994Leu) is neutral; The study of all 29 exons of APOB should be performed in routine diagnosis, now possible by NGS, since it is expected that a further 5–10% of clinical FH patients can have FH due to a novel APOB mutation; Due to low penetrance of APOB variants and high rate of common variants inAPOB, all novel variants need to be functionally characterized to prove their pathogenicity.
Peer review: yes
URI: http://hdl.handle.net/10400.18/5622
DOI: 10.1016/j.atherosclerosis.2018.06.819
ISSN: 0021-9150
Versão do Editor: https://doi.org/10.1016/j.atherosclerosis.2018.06.819
Aparece nas colecções:DPSPDNT - Artigos em revistas internacionais

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