Compound heterozygosity for a known (D250N) and a novel (E410K) missense mutation in the C-terminal domain of lipoprotein lipase causes familial chylomicronemia

H. Wiebusch; H. Funke; T. Bruin; H. Bucher; A. von Eckardstein; J. J. Kastelein; G. Assmann

Compound heterozygosity for a known (D250N) and a novel (E410K) missense mutation in the C-terminal domain of lipoprotein lipase causes familial chylomicronemia

H. Wiebusch, H. Funke, T. Bruin, H. Bucher, A. von Eckardstein, J. J. Kastelein, G. Assmann

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Research output: Contribution to journal › Article › Academic › peer-review

5 Citations (Scopus)

Original language	English
Pages (from-to)	381-383
Journal	Human mutation
Volume	8
Issue number	4
Publication status	Published - 1996

Cite this

@article{3bf2720f24d94ce5bac33b386e4c9f01,

title = "Compound heterozygosity for a known (D250N) and a novel (E410K) missense mutation in the C-terminal domain of lipoprotein lipase causes familial chylomicronemia",

author = "H. Wiebusch and H. Funke and T. Bruin and H. Bucher and {von Eckardstein}, A. and Kastelein, {J. J.} and G. Assmann",

year = "1996",

language = "English",

volume = "8",

pages = "381--383",

journal = "Human mutation",

issn = "1059-7794",

publisher = "Wiley-Liss Inc.",

number = "4",

}

TY - JOUR

T1 - Compound heterozygosity for a known (D250N) and a novel (E410K) missense mutation in the C-terminal domain of lipoprotein lipase causes familial chylomicronemia

AU - Wiebusch, H.

AU - Funke, H.

AU - Bruin, T.

AU - Bucher, H.

AU - von Eckardstein, A.

AU - Kastelein, J. J.

AU - Assmann, G.

PY - 1996

Y1 - 1996

M3 - Article

C2 - 8956048

SN - 1059-7794

VL - 8

SP - 381

EP - 383

JO - Human mutation

JF - Human mutation

IS - 4

ER -