Article
A novel complex deletion-insertion mutation mediated by Alu repetitive elements leads to lipoprotein lipase deficiency.
Molecular genetics and metabolism - 1 Nov 2007
Okubo Minoru, Horinishi Asako, Saito Mieko, Ebara Tetsu, Endo Yoriko, Kaku Kohei, Murase Toshio, Eto Masaaki
Abstract excerpt
Lipoprotein lipase (LPL) deficiency is a rare autosomal recessive inherited disorder, characterized by marked hypertriglyceridemia, eruptive xanthoma, hepatosplenomegaly, recurrent attacks of pancreatitis, and markedly low or absent LPL activity in postheparin plasma. A majority of LPL deficient patients have been reported to have point mutations in the LPL gene; however, we find a complex deletion-insertion...
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