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| Title : Different missense mutations in histidine-108 of lysosomal acid lipase cause cholesteryl ester storage disease in unrelated compound heterozygous and hemizygous individuals - Ries_1998_Hum.Mutat_12_44 |
| Author(s) : Ries S , Buchler C , Schindler G , Aslanidis C , Ameis D , Gasche C , Jung N , Schambach A , Fehringer P , Vanier MT , Belli DC , Greten H , Schmitz G |
| Ref : Hum Mutat , 12 :44 , 1998 |
| Abstract : Ries_1998_Hum.Mutat_12_44 |
| ESTHER : Ries_1998_Hum.Mutat_12_44 |
| PubMedSearch : Ries_1998_Hum.Mutat_12_44 |
| PubMedID: 9633819 |
| Gene_locus related to this paper: human-LIPA |