Gene Locus : human-CTSA
Mode of mutation : Natural mutant
Disease : Galactosialidosis
Summary :
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity :
Modification :
Torpedo_number : No torpedo number
Kinetic Parameter : No kinetic parameter
News : No news
Comment : p.G85S Gly85Ser (G57S in the publication) found in acompound heterozygote with C331LfsX55
| Title : New mutations in two Dutch patients with early infantile galactosialidosis - Groener_2003_Mol.Genet.Metab_78_222 |
| Author(s) : Groener J , Maaswinkel-Mooy P , Smit V , van der Hoeven M , Bakker J , Campos Y , d'Azzo A |
| Ref : Mol Genet Metab , 78 :222 , 2003 |
| Abstract : Groener_2003_Mol.Genet.Metab_78_222 |
| ESTHER : Groener_2003_Mol.Genet.Metab_78_222 |
| PubMedSearch : Groener_2003_Mol.Genet.Metab_78_222 |
| PubMedID: 12649068 |
| Gene_locus related to this paper: human-CTSA |