| 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 : |
| PubMedSearch : Klima_1993_J.Clin.Invest_92_2713 |
| PubMedID: 8254026 |
| Gene_locus related to this paper: human-LIPA |