Full name :
First name :
Mail :
Zip Code :
City :
Country :
Email :
Phone :
Fax :
Website :
Directory :
| Title : Novel human pathological mutations. Gene symbol: PPT1. Disease: neuronal ceroid lipofuscinosis, juvenile - |
| Author(s) : Mueller OT , Coovadia A |
| Ref : Hum Genet , 127 :490 , 2010 |
| PubMedID: 21491624 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Sialidosis and galactosialidosis: chromosomal assignment of two genes associated with neuraminidase-deficiency disorders - Mueller_1986_Proc.Natl.Acad.Sci.U.S.A_83_1817 |
| Author(s) : Mueller OT , Henry WM , Haley LL , Byers MG , Eddy RL , Shows TB |
| Ref : Proc Natl Acad Sci U S A , 83 :1817 , 1986 |
| Abstract : Mueller_1986_Proc.Natl.Acad.Sci.U.S.A_83_1817 |
| ESTHER : Mueller_1986_Proc.Natl.Acad.Sci.U.S.A_83_1817 |
| PubMedSearch : Mueller_1986_Proc.Natl.Acad.Sci.U.S.A_83_1817 |
| PubMedID: 3081902 |
| Gene_locus related to this paper: human-CTSA |
| Title : Identification and chromosome location of genes involved in glycoprotein neuraminidase deficiency disorders. (Abstract) - |
| Author(s) : Mueller OT , Henry WM , Haley LL , Byers MG , Eddy RL , Shows TB |
| Ref : American Journal of Human Genetics , 36 :205S only , 1984 |
| PubMedID: |
| Gene_locus related to this paper: human-CTSA |
| Title : Human beta-galactosidase and alpha-neuraminidase deficient mucolipidosis: genetic complementation analysis of the neuraminidase deficiency - Mueller_1982_Hum.Genet_60_158 |
| Author(s) : Mueller OT , Shows TB |
| Ref : Hum Genet , 60 :158 , 1982 |
| Abstract : Mueller_1982_Hum.Genet_60_158 |
| ESTHER : Mueller_1982_Hum.Genet_60_158 |
| PubMedSearch : Mueller_1982_Hum.Genet_60_158 |
| PubMedID: 7076257 |
| Gene_locus related to this paper: human-CTSA |