A de novo mutation in the lipoprotein lipase (LPL) gene causing LPL deficiency
β Scribed by E.E.G. Appelman; S.M. Bijvoet; H. Wiebusch; Y. Ma; P.W.A. Reymer; T. Bruin; M.R. Hayden; J.J.P. Kastelein
- Book ID
- 118324941
- Publisher
- Elsevier Science
- Year
- 1994
- Tongue
- English
- Weight
- 152 KB
- Volume
- 109
- Category
- Article
- ISSN
- 0021-9150
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π SIMILAR VOLUMES
Mutations in the lipoprotein lipase (LPL) gene are the most important cause of familial chylomicronemia with over 70 mutations being recorded to date. Thus far de novo mutations have not been described. Here we report on the molecular analysis of the family of a patient previously reported to be LPL
## Communicated by Ellen Solomon The aim of this study was to identify mutations in the lipoprotein lipase (LPL) gene in 20 unrelated patients with familial lipoprotein deficiency (FLLD) and to investigate the genotype/phenotype relationship. The previously reported G188E mutation (Monsalve et al.