Concepedia

A missense mutation (Asp250→Asn) in exon 6 of the human lipoprotein lipase gene causes chylomicronemia in patients of different ancestries

Yuanhong Ma, Bonnie I. Wilson, Saskia M. Bijvoet, Howard Henderson, Elizabeth Cramb, Ghislaine O. Roederer, M.R. Ven Murthy, Pierre Julien, H. D. Bakker, John J.P. Kastelein,

Genomics · 1992 · 43 citations · 16 references

DOI

Concepts

References

16

Enzymatic Determination of Total Serum Cholesterol

Charles C. Allain, Lucy S Poon, Cicely S G Chan et al. · Clinical Chemistry · 1974 · 9.2K citations · Full text

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The Metabolic Basis of Inherited Disease

Annals of Internal Medicine · 1990 · 4K citations

, , +13

An LFA-3 cDNA encodes a phospholipid-linked membrane protein homologous to its receptor CD2

Brian Seed · Nature · 1987 · 691 citations

, , +9

Detection and characterization of the heterozygote state for lipoprotein lipase deficiency.

Stephan P. Babirak, Per‐Henrik Iverius, W. Y. Fujimoto et al. · Arteriosclerosis An Official Journal of the American Heart Association Inc · 1989 · 294 citations · Full text

, , +16

Familial lipoprotein lipase deficiency and other causes of the chylomicronemia syndrome.

JD Brunzell · Medical Entomology and Zoology · 1989 · 287 citations

, , +16