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Title : A novel missense mutation (Gly2Arg) in the human lysosomal acid lipase gene is found in individuals with and without cholesterol ester storage disease (CESD) - |
Author(s) : Wiebusch H , Muntoni S , Funke H , Lu F , Seedorf U , Oberle S , Schwarzer U , Assmann G |
Ref : Clin Genet , 50 :106 , 1996 |
PubMedID: 8937772 |