A novel APOC2 gene mutation identified in a Chinese patient with severe hypertriglyceridemia and recurrent pancreatitis-Reference-Cited by-同舟云学术

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A novel APOC2 gene mutation identified in a Chinese patient with severe hypertriglyceridemia and recurrent pancreatitis

Published:2016-01-16 Issue:1 Volume:15 Page:
ISSN:1476-511X
Container-title:Lipids in Health and Disease
language:en
Short-container-title:Lipids Health Dis

Author:

Jiang Jingjing,Wang Yuhui,Ling Yan,Kayoumu Abudurexiti,Liu George,Gao Xin

Funder

National Natural Science Foundation of China

Major State Basic Research Development Program of China

Publisher

Springer Science and Business Media LLC

Subject

Biochemistry (medical),Clinical Biochemistry,Endocrinology,Endocrinology, Diabetes and Metabolism

Link

http://link.springer.com/content/pdf/10.1186/s12944-015-0171-6

Reference27 articles.

1. Surendran RP, Visser ME, Heemelaar S, Wang J, Peter J, Defesche JC, et al. Mutations in LPL, APOC2, APOA5, GPIHBP1 and LMF1 in patients with severe hypertriglyceridaemia. J Intern Med. 2012;272:185–96.

2. Jong MC, Hofker MH, Havekes LM. Role of ApoCs in lipoprotein metabolism: functional differences between ApoC1, ApoC2, and ApoC3. Arterioscler Thromb Vasc Biol. 1999;19:472–84.

3. Cox DW, Breckenridge WC, Little JA. Inheritance of apolipoprotein C-II deficiency with hypertriglyceridemia and pancreatitis. N Engl J Med. 1978;299:1421–4.

4. Breckenridge WC, Little JA, Steiner G, Chow A, Poapst M. Hypertriglyceridemia associated with deficiency of apolipoprotein C-II. N Engl J Med. 1978;298:1265–73.

5. Ding Y, Wang Y, Zhu H, Fan J, Yu L, Liu G, et al. Hypertriglyceridemia and delayed clearance of fat load in transgenic rabbits expressing human apolipoprotein CIII. Transgenic Res. 2011;20:867–75.

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1. Pancreatitis as a Main Consequence of APOC2-Related Hypertriglyceridemia: The Role of Nonsense and Frameshift Variants;International Journal of Genomics;2024-05-30

2. Understanding Hypertriglyceridemia: Integrating Genetic Insights;Genes;2024-01-30

3. Considerations for Familial Chylomicronemia Diagnosis in the Era of Next-Generation Sequencing: A Latin American Perspective;Journal of Inborn Errors of Metabolism and Screening;2024

4. Sequence Variant Analysis of the APOCII Locus among an Arab Cohort;International Journal of Molecular Sciences;2023-11-14

5. Comprehensive review on the pathogenesis of hypertriglyceridaemia-associated acute pancreatitis;Annals of Medicine;2023-10-09

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