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| Title : Hepatic lipase deficiency in a Middle-Eastern-Arabic male. - Al Riyami_2010_BMJ.Case.Rep__ |
| Author(s) : Al Riyami N , Al-Ali AM , Al-Sarraf AJ , Hill J , Sachs-Barrable K , Hegele R , Wasan KM , Frohlich J |
| Ref : BMJ Case Rep , : , 2010 |
| Abstract : Al Riyami_2010_BMJ.Case.Rep__ |
| ESTHER : Al Riyami_2010_BMJ.Case.Rep__ |
| PubMedSearch : Al Riyami_2010_BMJ.Case.Rep__ |
| PubMedID: 22798447 |
| Gene_locus related to this paper: human-LIPC |
| Title : Missense mutation (Gly----Glu188) of human lipoprotein lipase imparting functional deficiency - Emi_1990_J.Biol.Chem_265_5910 |
| Author(s) : Emi M , Wilson DE , Iverius PH , Wu L , Hata A , Hegele R , Williams RR , Lalouel JM |
| Ref : Journal of Biological Chemistry , 265 :5910 , 1990 |
| Abstract : Emi_1990_J.Biol.Chem_265_5910 |
| ESTHER : Emi_1990_J.Biol.Chem_265_5910 |
| PubMedSearch : Emi_1990_J.Biol.Chem_265_5910 |
| PubMedID: 1969408 |
| Gene_locus related to this paper: human-LPL |
| Title : Lipoprotein lipase deficiency resulting from a nonsense mutation in exon 3 of the lipoprotein lipase gene - Emi_1990_Am.J.Hum.Genet_47_107 |
| Author(s) : Emi M , Hata A , Robertson M , Iverius PH , Hegele R , Lalouel JM |
| Ref : American Journal of Human Genetics , 47 :107 , 1990 |
| Abstract : Emi_1990_Am.J.Hum.Genet_47_107 |
| ESTHER : Emi_1990_Am.J.Hum.Genet_47_107 |
| PubMedSearch : Emi_1990_Am.J.Hum.Genet_47_107 |
| PubMedID: 2349938 |
| Gene_locus related to this paper: human-LPL |