Compound heterozygosity of novel missense mutations (Ser45→Gly, Cys278→Arg) in the lipoprotein lipase gene in a newborn Korean infant-Reference-Cited by-同舟云学术

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Compound heterozygosity of novel missense mutations (Ser45→Gly, Cys278→Arg) in the lipoprotein lipase gene in a newborn Korean infant

Published:2008-01 Issue:1-2 Volume:387 Page:172-174
ISSN:0009-8981
Container-title:Clinica Chimica Acta
language:en
Short-container-title:Clinica Chimica Acta

Author:

Lee JangHoon,Ko KwangMin,Ryu SookWon,Lee JungHwa,Lee KwangChul,Son ChangSung,Lee JooWon

Publisher

Elsevier BV

Subject

Biochemistry, medical,Clinical Biochemistry,Biochemistry,General Medicine

Reference13 articles.

1. Familial lipoprotein lipase (LPL) deficiency: a catalogue of LPL gene mutations identified in 20 patients from the UK, Sweden, and Italy;Mailly;Hum Mutat,1997

2. The familial hyperchylomicronemia syndrome. New insights into underlying genetic defects;Santamarina-Fojo;JAMA,1991

3. Molecular genetics of human lipoprotein lipase deficiency;Hayden;Mol Cell Biochem,1992

4. A novel nonsense mutation in the LPL gene in a Chinese neonate with hypertriglyceridemia;Chan;Clin Chim Acta,2006

5. Lipoprotein lipase: structure, function and mechanism of action;Santamarina-Fojo;Int J Clin Lab Res,1994

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Pathogenic classification of LPL gene variants reported to be associated with LPL deficiency;Journal of Clinical Lipidology;2016-03

2. Familial lipoprotein lipase deficiency: a case of compound heterozygosity of a novel duplication (R44Kfs*4) and a common mutation (N291S) in the lipoprotein lipase gene;Annals of Clinical Biochemistry: International Journal of Laboratory Medicine;2013-06-04

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