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Title : A missense mutation (Thr-6Pro) in the lysosomal acid lipase (LAL) gene is present with a high frequency in three different ethnic populations: impact on serum lipoprotein concentrations - Muntoni_1996_Hum.Genet_97_265 |
Author(s) : Muntoni S , Wiebusch H , Funke H , Seedorf U , Roskos M , Schulte H , Saku K , Arakawa K , Balestrieri A , Assmann G |
Ref : Hum Genet , 97 :265 , 1996 |
Abstract : Muntoni_1996_Hum.Genet_97_265 |
ESTHER : Muntoni_1996_Hum.Genet_97_265 |
PubMedSearch : Muntoni_1996_Hum.Genet_97_265 |
PubMedID: 8566968 |
Title : A novel variant of lysosomal acid lipase (Leu336-->\;Pro) associated with acid lipase deficiency and cholesterol ester storage disease - Seedorf_1995_Arterioscler.Thromb.Vasc.Biol_15_773 |
Author(s) : Seedorf U , Wiebusch H , Muntoni S , Christensen NC , Skovby F , Nickel V , Roskos M , Funke H , Ose L , Assmann G |
Ref : Arterioscler Thromb Vasc Biol , 15 :773 , 1995 |
Abstract : Seedorf_1995_Arterioscler.Thromb.Vasc.Biol_15_773 |
ESTHER : Seedorf_1995_Arterioscler.Thromb.Vasc.Biol_15_773 |
PubMedSearch : Seedorf_1995_Arterioscler.Thromb.Vasc.Biol_15_773 |
PubMedID: 7773732 |
Gene_locus related to this paper: human-LIPA |