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Compound heterozygosity for frameshift mutations in the gene for lipoprotein lipase in a patient with early-onset chylomicronemia

✍ Scribed by Luc Foubert; Jean Luc De Gennes; Pascale Benlian; Jacqueline Truffert; Li Miao; Michael R. Hayden


Publisher
John Wiley and Sons
Year
1998
Tongue
English
Weight
456 KB
Volume
11
Category
Article
ISSN
1059-7794

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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