Article
Polymorphisms in PNLIP, encoding pancreatic lipase, and associations with metabolic traits.
Journal of human genetics - 1 Jan 2001
Hegele R A, Ramdath D D, Ban M R, Carruthers M N, Carrington C V, Cao H
Abstract excerpt
Pancreatic lipase (EC 3.1.1.3) is an exocrine secretion that hydrolyzes dietary triglycerides in the small intestine. We developed genomic amplification primers to sequence the 13 exons of PNLIP, which encodes pancreatic lipase, in order to screen for possible mutations in cell lines of four children with pancreatic lipase deficiency (OMIM 246600). We found no missense or nonsense mutations in these samples, but...
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