Novel APOB missense variants, A224T and V925L, in a black South African woman with marked hypocholesterolemia

Biochemistry, Genetics and Molecular Biology

• Missense 100%
• Hypocholesterolemia 100%
• Microsomal Triglyceride Transfer Protein 100%
• Hypobetalipoproteinemia 66%
• PCSK9 66%
• Genotyping 33%
• Genetics 33%
• Allele 33%
• Blood Lipids 33%
• Lipoprotein 33%
• Apolipoprotein B 33%
• Plasmid 33%
• Loss of Function Mutation 33%
• Immunoprecipitation 33%
• Secretion (Process) 33%
• Binding Protein 33%
• Coding Region 33%
• In Vitro Study 33%
• Lipid Level 33%
• Protein Sequencing 33%
• Amino Acids 33%
• Gene Frequency 33%
• Blood Level 33%
• N-Terminus 33%
• Protein Interaction 33%
• Low-Density Lipoprotein 33%
• Western Blotting 33%

Keyphrases

• Black South Africans 100%
• Apolipoprotein B (Apo B) 100%
• Hypocholesterolemia 100%
• Missense Variants 100%
• Microsomal Triglyceride Transfer Protein 42%
• Proprotein Convertase Subtilisin Kexin Type 9 (PCSK9) 28%
• Hypobetalipoproteinemia 28%
• Low-density Lipoprotein Cholesterol (LDL-C) 14%
• Amino Acids 14%
• African Ancestry 14%
• Cholesterol 14%
• Black Females 14%
• Sequence Analysis 14%
• Non-associated 14%
• Deleterious Effects 14%
• Southern African 14%
• Plasma Concentration 14%
• Xhosa 14%
• Plasmid 14%
• COS-7 Cells 14%
• In Vitro Study 14%
• APOB Gene 14%
• Allele Frequency 14%
• Lipoprotein Assembly 14%
• APOC3 14%
• Coding Region 14%
• ApoB48 14%
• Protein Binding 14%
• Protein-protein Interaction 14%
• ANGPTL3 14%
• Co-immunoprecipitation (co-IP) 14%
• Genetic Causes 14%
• Mammalian Species 14%
• Plasma Lipid Levels 14%
• Population Screening 14%
• Gain-of-function mutation 14%
• Novel Variants 14%
• Binding Region 14%
• SAR1B 14%
• Western Blotting 14%
• Female Subjects 14%