Associated Papers
Synergic combination of the monogenic ANGPTL3 p.H343R variant and a polygenic predisposition in a family with hypobetalipoproteinemia.
Levy M et al.
Atherosclerosis, 2025
Structures of Angptl3 and Angptl4, modulators of triglyceride levels and coronary artery disease.
Biterova E et al.
Scientific Reports, 2018
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar
Clinical and genetic analysis of a family diagnosed with familial hypobetalipoproteinemia in which the proband was diagnosed with diabetes mellitus.
Wang X et al.
Atherosclerosis, 2015
Rare loss-of-function mutations in ANGPTL family members contribute to plasma triglyceride levels in humans.
Romeo S et al.
The Journal of Clinical Investigation, 2009
[Hallervorden-Spatz familial dystonia apropos of a family in which 3 brothers are afflicted. Diagnostic and genetic discussion].
Cruz-Marin F et al.
Journal De Genetique Humaine, 1981
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