Heterozygous Null LDLR Mutation in a Familial Hypercholesterolemia Patient With an Atypical Presentation Because of Alcohol Abuse-Reference-Cited by-同舟云学术

Heterozygous Null LDLR Mutation in a Familial Hypercholesterolemia Patient With an Atypical Presentation Because of Alcohol Abuse

Published:2017-10 Issue:5 Volume:10 Page:
ISSN:1942-325X
Container-title:Circulation: Cardiovascular Genetics
language:en
Short-container-title:Circ Cardiovasc Genet

Author:

Panach Kamaldeep¹,Garg Abhimanyu¹,Ahmad Zahid¹

Affiliation:

1. From the Division of Endocrinology (K.P.), Department of Internal Medicine (K.P.), and Department of Internal Medicine, Division of Nutrition and Metabolic Diseases, Center for Human Nutrition, UT Southwestern Medical Center, Dallas, TX (A.G., Z.A.).

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Genetics (clinical),Cardiology and Cardiovascular Medicine,Genetics

Reference28 articles.

1. Treatment Gaps in Adults With Heterozygous Familial Hypercholesterolemia in the United States

2. Familial Hypercholesterolemia: Identification of a Defect in the Regulation of 3-Hydroxy-3-Methylglutaryl Coenzyme A Reductase Activity Associated with Overproduction of Cholesterol

3. Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society

4. THE LDL RECEPTOR LOCUS IN FAMILIAL HYPERCHOLESTEROLEMIA: Mutational Analysis of a Membrane Protein

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