Homozygosity for a mutation in the lipoprotein lipase gene (Gly139?Ser) causes chylomicronaemia in a boy of Spanish descent-Reference-Cited by-同舟云学术

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Homozygosity for a mutation in the lipoprotein lipase gene (Gly139?Ser) causes chylomicronaemia in a boy of Spanish descent

Published:1994-03 Issue:3 Volume:93 Page:339-343
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Bijvoet Saskia M.,Bruin Taco,Thzg�l Suat,Bakker Henk D.,Hayden Michael R.,Kastelein John J. P.

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/BF00212035.pdf

Reference31 articles.

1. Abeling NGGM, Bakker HD, Van Gennip AH (1981) Biochemical findings in a patient with lipoprotein lipase deficiency (hyperlipoproteinemia type I). J Inherited Metab Dis 4:175?176

2. Ameis D, Kobayashi J, Davis RC, Ben-Zeev O, Malloy MJ, Kane JP, Lee G, Wong H, Greten H, Havel RJ, Schotz MC (1990) Familial hyperchylomicronemia associated with a missense mutation in the lipoprotein lipase gene. J Clin Invest 87:1165?1170

3. Babirak SP, Iverius PH, Fujimoto WY, Brunzell JD (1989) Detection and characterisation of the heterozygote state for lipoprotein lipase deficiency. Arteriosclerosis 9:326?334

4. Bruin T, Reijmer PWE, Groenemeijer BE, Talmud PJ, Kastelein JJP (1991) HindIII polymorphism in the lipoprotein lipase gene, detected by polymerase chain reaction. Nucleic Acids Res 19:6346

5. Bruin T, Tuzgöl S, Diermen DE Van, Hoogerbrugge van der Linden N, Brunzell gnJD, Hayden MR, Kastelein JJP (1993) Recurrent pancreatitis and chylomicronemia in an extended Dutch kindred is caused by a Gly154?Ser substitution in lipoprotein lipase. J Lipid Res 34 (in press)

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