Amino acid substitution (Ile194----Thr) in exon 5 of the lipoprotein lipase gene causes lipoprotein lipase deficiency in three unrelated probands. Support for a multicentric origin.-Reference-Cited by-同舟云学术

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Amino acid substitution (Ile194----Thr) in exon 5 of the lipoprotein lipase gene causes lipoprotein lipase deficiency in three unrelated probands. Support for a multicentric origin.

Published:1991-06-01 Issue:6 Volume:87 Page:2005-2011
ISSN:0021-9738
Container-title:Journal of Clinical Investigation
language:en
Short-container-title:J. Clin. Invest.

Author:

Henderson H E,Ma Y,Hassan M F,Monsalve M V,Marais A D,Winkler F,Gubernator K,Peterson J,Brunzell J D,Hayden M R

Publisher

American Society for Clinical Investigation

Subject

General Medicine

Cited by 74 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. Familial chylomicronemia syndrome: a novel mutation in the lipoprotein lipase gene;Acta Gastro Enterologica Belgica;2024-06

2. Frameshift coding sequence variants in the LPL gene: identification of two novel events and exploration of the genotype–phenotype relationship for variants reported to date;Lipids in Health and Disease;2023-08-11

3. Homozygous familial lipoprotein lipase deficiency without obvious coronary artery stenosis;Clinical Biochemistry;2022-10

4. Clinical characteristics and variant analyses of transient infantile hypertriglyceridemia related to GPD1 gene;Frontiers in Genetics;2022-08-16

5. Identification and Characterization of Two Novel Compounds: Heterozygous Variants of Lipoprotein Lipase in Two Pedigrees With Type I Hyperlipoproteinemia;Frontiers in Endocrinology;2022-07-18

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