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Title : Genetic and biochemical evidence that CESD and Wolman disease are distinguished by residual lysosomal acid lipase activity - Aslanidis_1996_Genomics_33_85 |
Author(s) : Aslanidis C , Ries S , Fehringer P , Buchler C , Klima H , Schmitz G |
Ref : Genomics , 33 :85 , 1996 |
Abstract : Aslanidis_1996_Genomics_33_85 |
ESTHER : Aslanidis_1996_Genomics_33_85 |
PubMedSearch : Aslanidis_1996_Genomics_33_85 |
PubMedID: 8617513 |
Gene_locus related to this paper: human-LIPA |
Title : Genomic organization of the human lysosomal acid lipase gene (LIPA) - Aslanidis_1994_Genomics_20_329 |
Author(s) : Aslanidis C , Klima H , Lackner KJ , Schmitz G |
Ref : Genomics , 20 :329 , 1994 |
Abstract : Aslanidis_1994_Genomics_20_329 |
ESTHER : Aslanidis_1994_Genomics_20_329 |
PubMedSearch : Aslanidis_1994_Genomics_20_329 |
PubMedID: 8020990 |
Title : A splice junction mutation causes deletion of a 72-base exon from the mRNA for lysosomal acid lipase in a patient with cholesteryl ester storage disease - Klima_1993_J.Clin.Invest_92_2713 |
Author(s) : Klima H , Ullrich K , Aslanidis C , Fehringer P , Lackner KJ , Schmitz G |
Ref : J Clinical Investigation , 92 :2713 , 1993 |
Abstract : Klima_1993_J.Clin.Invest_92_2713 |
ESTHER : Klima_1993_J.Clin.Invest_92_2713 |
PubMedSearch : Klima_1993_J.Clin.Invest_92_2713 |
PubMedID: 8254026 |
Gene_locus related to this paper: human-LIPA |