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 :
c777ins5 GTGAG insertion of 5 bases after codon 259 causes framshift 105 residues downstream found in a compound heterozygote
| 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 : |
| PubMedSearch : Richard_1998_Hum.Mutat_11_461 |
| PubMedID: 9603439 |
| Gene_locus related to this paper: human-CTSA |