Report for Shachter NS

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References (1)

Title : A novel missense mutation in the gene for lipoprotein lipase resulting in a highly conservative amino acid substitution (Asp180-->Glu) causes familial chylomicronemia (type I hyperlipoproteinemia) - Haubenwallner_1993_Genomics_18_392

Author(s) : Haubenwallner S , Horl G , Shachter NS , Presta E , Fried SK , Hofler G , Kostner GM , Breslow JL , Zechner R

Ref : Genomics , 18 :392 , 1993

Abstract : Haubenwallner_1993_Genomics_18_392

ESTHER : Haubenwallner_1993_Genomics_18_392

PubMedSearch : Haubenwallner_1993_Genomics_18_392

PubMedID: 8288243

Gene_locus related to this paper: human-LPL

Report for Shachter NS

General

References (1)

1. A novel missense mutation in the gene for lipoprotein lipase resulting in a highly conservative amino acid substitution (Asp180-->Glu) causes familial chylomicronemia (type I hyperlipoproteinemia)