Bucher H

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References (1)

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(s) : Wiebusch H , Funke H , Bruin T , Bucher H , von Eckardstein A , Kastelein JJ , Assmann G

Ref : Hum Mutat , 8 :381 , 1996

PubMedID: 8956048

Gene_locus related to this paper: human-LPL

Bucher H

General

References (1)

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