Compound heterozygosity for a known and a novel defect in the lipoprotein lipase gene (Asp250 ? Asn; Ser251 ? Cys) resulting in lipoprotein lipase (LPL) deficiency

Netherlands Journal of Medicine - Tập 49 - Trang 189 - 1996
S.M. Bijvoet1, H. Wiebusch2, Y. Ma3, P.W.A. Reymer1, T. Bruin1, H.D. Bakker4, H. Funke2, G. Assmann2, M.R. Hayden3, J.J.P. Kastelein1
1Department of Vascular Medicine, Academic Medical Centre, University of Amsterdam, G1-146, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands
2Institut für Arterioskleroseforschung, Westfälische Wilhelms Universität, Münster, Germany
3Department of Medical Genetics, University of British Columbia, Vancouver, B.C., Canada
4Emma Kinderziekenhuis, Children's Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands

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Netherlands Journal of Medicine

Tập 49

189

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