Functional Characterization of Two Low-Density Lipoprotein Receptor Gene Mutations in Two Chinese Patients with Familial Hypercholesterolemia

Open Access

Peer-reviewed

Research Article

Haihong Wang,

Affiliation Department of Atherosclerosis, Beijing Institute of Heart Lung and Blood Vessel Disease, Beijing Anzhen Hospital Affiliated with Capital Medical University, Beijing, China
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Shengyuan Xu,

Affiliation Department of Atherosclerosis, Beijing Institute of Heart Lung and Blood Vessel Disease, Beijing Anzhen Hospital Affiliated with Capital Medical University, Beijing, China
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Liyuan Sun,

Affiliation Department of Atherosclerosis, Beijing Institute of Heart Lung and Blood Vessel Disease, Beijing Anzhen Hospital Affiliated with Capital Medical University, Beijing, China
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Xiaodong Pan,

Affiliation Department of Atherosclerosis, Beijing Institute of Heart Lung and Blood Vessel Disease, Beijing Anzhen Hospital Affiliated with Capital Medical University, Beijing, China
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Shiwei Yang,

Affiliation Department of Atherosclerosis, Beijing Institute of Heart Lung and Blood Vessel Disease, Beijing Anzhen Hospital Affiliated with Capital Medical University, Beijing, China
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Luya Wang

* E-mail: wangluya@126.com

Affiliation Department of Atherosclerosis, Beijing Institute of Heart Lung and Blood Vessel Disease, Beijing Anzhen Hospital Affiliated with Capital Medical University, Beijing, China
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Transfection
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Familial hypercholesterolemia
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Flow cytometry
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Mutation detection
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Endoplasmic reticulum
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Confocal laser microscopy
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Cholesterol
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Heterozygosity
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