Cargando…
Rare Protein-Truncating Variants in APOB, Lower Low-Density Lipoprotein Cholesterol, and Protection Against Coronary Heart Disease
BACKGROUND: Familial hypobetalipoproteinemia is a genetic disorder caused by rare protein-truncating variants (PTV) in the gene encoding APOB (apolipoprotein B), the major protein component of LDL (low-density lipoprotein) and triglyceride-rich lipoprotein particles. Whether heterozygous APOB defici...
Autores principales: | Peloso, Gina M., Nomura, Akihiro, Khera, Amit V., Chaffin, Mark, Won, Hong-Hee, Ardissino, Diego, Danesh, John, Schunkert, Heribert, Wilson, James G., Samani, Nilesh, Erdmann, Jeanette, McPherson, Ruth, Watkins, Hugh, Saleheen, Danish, McCarthy, Shane, Teslovich, Tanya M., Leader, Joseph B., Lester Kirchner, H., Marrugat, Jaume, Nohara, Atsushi, Kawashiri, Masa-aki, Tada, Hayato, Dewey, Frederick E., Carey, David J., Baras, Aris, Kathiresan, Sekar |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Lippincott Williams & Wilkins
2019
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7044908/ https://www.ncbi.nlm.nih.gov/pubmed/30939045 http://dx.doi.org/10.1161/CIRCGEN.118.002376 |
Ejemplares similares
-
A Healthy Family of Familial Hypobetalipoproteinemia Caused by a Protein-truncating Variant in the PCSK9 Gene
por: Tada, Hayato, et al.
Publicado: (2020) -
A missense variant in Mitochondrial Amidoxime Reducing Component 1 gene and protection against liver disease
por: Emdin, Connor A., et al.
Publicado: (2020) -
Correction: A missense variant in Mitochondrial Amidoxime Reducing Component 1 gene and protection against liver disease
por: Emdin, Connor A., et al.
Publicado: (2021) -
Serum Triglycerides and Atherosclerotic Cardiovascular Disease: Insights from Clinical and Genetic Studies
por: Tada, Hayato, et al.
Publicado: (2018) -
Analysis of predicted loss-of-function variants in UK Biobank identifies variants protective for disease
por: Emdin, Connor A., et al.
Publicado: (2018)