Title : Novel mutations of the lipoprotein lipase gene associated with hypertriglyceridemia in members of type 2 diabetic pedigrees.

Pub. Date : 2007 Aug

PMID : 17476032






1 Functional Relationships(s)
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1 Another novel double mutation, Lys312insC + Asn291Ser, resulted in the loss of the catalytic ability of LPL attributable to the complete loss of the C-terminal domain and alteration in the heparin association site. Heparin lipoprotein lipase Homo sapiens