Genomics of familial hypercholesterolaemia

Curr Opin Lipidol. 2019 Apr;30(2):148-150. doi: 10.1097/MOL.0000000000000584.

Authors

Ana C Alves^{1

2}, Joana R Chora^{1

2}, Mafalda Bourbon^{1

2}

Affiliations

¹ Unidade de I&D, Grupo de Investigação Cardiovascular, Departamento de Promoção da Saúde e Prevenção de Doenças Não Transmissíveis, Instituto Nacional de Saúde Doutor Ricardo Jorge.
² BioISI - Biosystems & Integrative Sciences Institute, Faculdade de Ciências, Universidade de Lisboa, Lisboa, Portugal.

PMID: 30844855
DOI: 10.1097/MOL.0000000000000584

No abstract available

Publication types

Editorial
Research Support, Non-U.S. Gov't

MeSH terms

ATP Binding Cassette Transporter, Subfamily G, Member 5 / blood
ATP Binding Cassette Transporter, Subfamily G, Member 5 / genetics
ATP Binding Cassette Transporter, Subfamily G, Member 8 / blood
ATP Binding Cassette Transporter, Subfamily G, Member 8 / genetics
Adaptor Proteins, Signal Transducing / blood
Adaptor Proteins, Signal Transducing / genetics
Apolipoprotein B-100 / blood
Apolipoprotein B-100 / genetics*
Apolipoproteins E / blood
Apolipoproteins E / genetics
Cholesterol, LDL / blood
Databases, Genetic
Gene Expression
Genomics / methods
Humans
Hyperlipoproteinemia Type II / blood
Hyperlipoproteinemia Type II / genetics*
Hyperlipoproteinemia Type II / pathology
Lipid Metabolism / genetics
Lipoproteins / blood
Lipoproteins / genetics
Mutation*
Proprotein Convertase 9 / blood
Proprotein Convertase 9 / genetics*
Receptors, LDL / blood
Receptors, LDL / genetics*
Sterol Esterase / blood
Sterol Esterase / genetics

Substances

ABCG5 protein, human
ABCG8 protein, human
APOB protein, human
ATP Binding Cassette Transporter, Subfamily G, Member 5
ATP Binding Cassette Transporter, Subfamily G, Member 8
Adaptor Proteins, Signal Transducing
Apolipoprotein B-100
Apolipoproteins E
Cholesterol, LDL
LDLR protein, human
LDLRAP1 protein, human
Lipoproteins
Receptors, LDL
LIPA protein, human
Sterol Esterase
PCSK9 protein, human
Proprotein Convertase 9