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| Title : New lysosomal acid lipase gene mutants explain the phenotype of Wolman disease and cholesteryl ester storage disease - Pagani_1998_J.Lipid.Res_39_1382 |
| Author(s) : Pagani F , Pariyarath R , Garcia R , Stuani C , Burlina AB , Ruotolo G , Rabusin M , Baralle FE |
| Ref : J Lipid Res , 39 :1382 , 1998 |
| Abstract : Pagani_1998_J.Lipid.Res_39_1382 |
| ESTHER : Pagani_1998_J.Lipid.Res_39_1382 |
| PubMedSearch : Pagani_1998_J.Lipid.Res_39_1382 |
| PubMedID: 9684740 |
| Gene_locus related to this paper: human-LIPA |
| Title : L273S missense substitution in human lysosomal acid lipase creates a new N-glycosylation site - Pariyarath_1996_FEBS.Lett_397_79 |
| Author(s) : Pariyarath R , Pagani F , Stuani C , Garcia R , Baralle FE |
| Ref : FEBS Letters , 397 :79 , 1996 |
| Abstract : Pariyarath_1996_FEBS.Lett_397_79 |
| ESTHER : Pariyarath_1996_FEBS.Lett_397_79 |
| PubMedSearch : Pariyarath_1996_FEBS.Lett_397_79 |
| PubMedID: 8941718 |
| Title : Expression of lysosomal acid lipase mutants detected in three patients with cholesteryl ester storage disease - Pagani_1996_Hum.Mol.Genet_5_1611 |
| Author(s) : Pagani F , Garcia R , Pariyarath R , Stuani C , Gridelli B , Paone G , Baralle FE |
| Ref : Hum Mol Genet , 5 :1611 , 1996 |
| Abstract : Pagani_1996_Hum.Mol.Genet_5_1611 |
| ESTHER : Pagani_1996_Hum.Mol.Genet_5_1611 |
| PubMedSearch : Pagani_1996_Hum.Mol.Genet_5_1611 |
| PubMedID: 8894696 |
| Gene_locus related to this paper: human-LIPA |
| Title : Restriction enzyme analysis of the apolipoprotein A-I gene in fish eye disease and Tangier disease - Rees_1984_Acta.Med.Scand_215_235 |
| Author(s) : Rees A , Stocks J , Schoulders C , Carlson LA , Baralle FE , Galton DJ |
| Ref : Acta Med Scand , 215 :235 , 1984 |
| Abstract : Rees_1984_Acta.Med.Scand_215_235 |
| ESTHER : Rees_1984_Acta.Med.Scand_215_235 |
| PubMedSearch : Rees_1984_Acta.Med.Scand_215_235 |
| PubMedID: 6428166 |