A. C. Alves

发表论文 14 篇 · 总被引 428 次 · h-index 8

代表论文

• Familial hypercholesterolaemia in Portugal. (2008 · Atherosclerosis · 被引 91)
• Update of the Portuguese Familial Hypercholesterolaemia Study. (2010 · Atherosclerosis · 被引 67)
• Genetic diagnosis of familial hypercholesterolaemia: the importance of functional analysis of potential splice-site mutations (2008 · Journal of Medical Genetics · 被引 52)
• Structural analysis of APOB variants, p.(Arg3527Gln), p.(Arg1164Thr) and p.(Gln4494del), causing Familial Hypercholesterolaemia provides novel insights into variant pathogenicity (2015 · Scientific Reports · 被引 38)
• In vitro functional characterization of missense mutations in the LDLR gene. (2012 · Atherosclerosis · 被引 27)
• Functional characterization of 16 variants found in the LDL receptor gene (2025 · Journal of Lipid Research · 被引 4)