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Mutations in the VNTR of the carboxyl-ester lipase gene (CEL) are a rare cause of monogenic diabetes

✍ Scribed by Janniche Torsvik; Stefan Johansson; Anders Johansen; Jakob Ek; Jayne Minton; Helge Ræder; Sian Ellard; Andrew Hattersley; Oluf Pedersen; Torben Hansen; Anders Molven; Pål R. Njølstad


Publisher
Springer
Year
2009
Tongue
English
Weight
309 KB
Volume
127
Category
Article
ISSN
0340-6717

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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