Article
Mutations in exon 3 of the lipoprotein lipase gene segregating in a family with hypertriglyceridemia, pancreatitis, and non-insulin-dependent diabetes.
The Journal of clinical investigation - 1 Jul 1993
Wilson D E, Hata A, Kwong L K, Lingam A, Shuhua J, Ridinger D N, Yeager C, Kaltenborn K C, Iverius P H, Lalouel J M
Abstract excerpt
A proband with chylomicronemia, pancreatitis, and non-insulin-dependent diabetes (NIDDM) bears two different mutations in exon 3 of the lipoprotein lipase (LPL) gene: a missense mutation, 75Arg-->Ser, inherited through the paternal line and a truncation, 73Tyr-->Ter, through the maternal line. NIDDM appeared to be independently segregating. The R75S mutant was studied in extracts and media from transfected COS-1...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.