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Homozygosity for a mutation in the lipoprotein lipase gene (Gly139→Ser) causes chylomicronaemia in a boy of Spanish descent

✍ Scribed by Saskia M. Bijvoet; Taco Bruin; Suat Thzgöl; Henk D. Bakker; Michael R. Hayden; John J. P. Kastelein


Publisher
Springer
Year
1994
Tongue
English
Weight
837 KB
Volume
93
Category
Article
ISSN
0340-6717

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A single Ser259Arg mutation in the gene
✍ Luc Foubert; Taco Bruin; Jean Luc De Gennes; Ewa Ehrenborg; Jean Furioli; John K 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 180 KB 👁 2 views

Lipoprotein lipase (LPL) is the rate-limiting enzyme for the hydrolysis of triglyceride-rich lipoproteins. Numerous LPL gene mutations have been described as a cause of familial chylomicronemia in various populations. In general, allelic heterogeneity is observed in LPL deficiency in different popul