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

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Citation

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

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

Hum Mutat. 1996;8(4):381-3.

PubMed ID
8956048 [ View in PubMed
]
Abstract

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Polypeptides
NameUniProt ID
Lipoprotein lipaseP06858Details