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| Title : Molecular pathology of galactosialidosis in a patient affected with two new frameshift mutations in the cathepsin A\/protective protein gene - Richard_1998_Hum.Mutat_11_461 |
| Author(s) : Richard C , Tranchemontagne J , Elsliger MA , Mitchell GA , Potier M , Pshezhetsky AV |
| Ref : Hum Mutat , 11 :461 , 1998 |
| Abstract : Richard_1998_Hum.Mutat_11_461 |
| ESTHER : Richard_1998_Hum.Mutat_11_461 |
| PubMedSearch : Richard_1998_Hum.Mutat_11_461 |
| PubMedID: 9603439 |
| Gene_locus related to this paper: human-CTSA |
| Title : Homologous modeling of the lysosomal protective protein\/carboxypeptidase L: structural and functional implications of mutations identified in galactosialidosis patients - Elsliger_1994_Proteins_18_81 |
| Author(s) : Elsliger MA , Potier M |
| Ref : Proteins , 18 :81 , 1994 |
| Abstract : Elsliger_1994_Proteins_18_81 |
| ESTHER : Elsliger_1994_Proteins_18_81 |
| PubMedSearch : Elsliger_1994_Proteins_18_81 |
| PubMedID: 8146124 |
| Title : Ring chromosome 20 and possible assignment of the structural gene encoding human carboxypeptidase-L to the distal segment of the long arm of chromosome 20 - Halal_1992_Am.J.Med.Genet_43_576 |
| Author(s) : Halal F , Chitayat D , Parikh H , Rosenblatt B , Tranchemontagne J , Vekemans M , Potier M |
| Ref : American Journal of Medicine Genet , 43 :576 , 1992 |
| Abstract : Halal_1992_Am.J.Med.Genet_43_576 |
| ESTHER : Halal_1992_Am.J.Med.Genet_43_576 |
| PubMedSearch : Halal_1992_Am.J.Med.Genet_43_576 |
| PubMedID: 1605251 |
| Gene_locus related to this paper: human-CTSA |
| Title : beta-Galactosidase-neuraminidase deficiency in adults: deficiency of a freeze-labile neuraminidase in leukocytes and fibroblasts - Suzuki_1981_Hum.Genet_58_387 |
| Author(s) : Suzuki Y , Sakuraba H , Potier M , Akagi M , Sakai M , Beppu H |
| Ref : Hum Genet , 58 :387 , 1981 |
| Abstract : Suzuki_1981_Hum.Genet_58_387 |
| ESTHER : Suzuki_1981_Hum.Genet_58_387 |
| PubMedSearch : Suzuki_1981_Hum.Genet_58_387 |
| PubMedID: 7327559 |
| Gene_locus related to this paper: human-CTSA |