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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 : 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 |