Mutations in exon 3 of the lipoprotein lipase gene segregating in a family with hypertriglyceridemia, pancreatitis, and non-insulin-dependent diabetes.

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....

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Detalhes bibliográficos
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: 1993
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC293568/
https://ncbi.nlm.nih.gov/pubmed/8325986
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