Roskos M

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 :

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 :

PubMedSearch : Seedorf_1995_Arterioscler.Thromb.Vasc.Biol_15_773

PubMedID: 7773732

Gene_locus related to this paper: human-LIPA

Roskos M

References (2)

1. 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

2. 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