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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 |