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 : A>G IVS7+3 splice junction mutation causing exon skipping SpDEx7 exon7 or exon8
| Title : Molecular and biochemical analysis of protective protein\/cathepsin A mutations: correlation with clinical severity in galactosialidosis - Zhou_1996_Hum.Mol.Genet_5_1977 |
| Author(s) : Zhou XY , van der Spoel A , Rottier R , Hale G , Willemsen R , Berry GT , Strisciuglio P , Morrone A , Zammarchi E , Andria G , d'Azzo A |
| Ref : Hum Mol Genet , 5 :1977 , 1996 |
| Abstract : Zhou_1996_Hum.Mol.Genet_5_1977 |
| ESTHER : Zhou_1996_Hum.Mol.Genet_5_1977 |
| PubMedSearch : Zhou_1996_Hum.Mol.Genet_5_1977 |
| PubMedID: 8968752 |
| Gene_locus related to this paper: human-CTSA |
| Title : Japanese-type adult galactosialidosis: a unique and common splice junction mutation causing exon skipping in the protective protein\/carboxypeptidase gene - |
| Author(s) : Shimmoto M , Takano T , Fukuhara Y , Oshima A , Sakuraba H , Suzuki Y |
| Ref : Proc Jpn Acad , 66B :217 , 1990 |
| PubMedID: |
| Gene_locus related to this paper: human-CTSA |