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| Title : Structural and functional study of K453E mutant protective protein\/cathepsin A causing the late infantile form of galactosialidosis - Takiguchi_2000_J.Hum.Genet_45_200 |
| Author(s) : Takiguchi K , Itoh K , Shimmoto M , Ozand PT , Doi H , Sakuraba H |
| Ref : J Hum Genet , 45 :200 , 2000 |
| Abstract : Takiguchi_2000_J.Hum.Genet_45_200 |
| ESTHER : Takiguchi_2000_J.Hum.Genet_45_200 |
| PubMedSearch : Takiguchi_2000_J.Hum.Genet_45_200 |
| PubMedID: 10944848 |
| Gene_locus related to this paper: human-CTSA |
| Title : Protective protein gene mutations in galactosialidosis - Shimmoto_1993_J.Clin.Invest_91_2393 |
| Author(s) : Shimmoto M , Fukuhara Y , Itoh K , Oshima A , Sakuraba H , Suzuki Y |
| Ref : J Clinical Investigation , 91 :2393 , 1993 |
| Abstract : Shimmoto_1993_J.Clin.Invest_91_2393 |
| ESTHER : Shimmoto_1993_J.Clin.Invest_91_2393 |
| PubMedSearch : Shimmoto_1993_J.Clin.Invest_91_2393 |
| PubMedID: 8514852 |
| Gene_locus related to this paper: human-CTSA |
| Title : A new point mutation of protective protein gene in two Japanese siblings with juvenile galactosialidosis. - |
| Author(s) : Fukuhara Y , Takano T , Shimmoto M , Oshima A , Takeda E , Kuroda Y , Sakuraba H , Suzuki Y |
| Ref : Brain Dysfunction , 5 :319 , 1992 |
| PubMedID: |
| Gene_locus related to this paper: human-CTSA |
| Title : Galactosialidosis: clinical and molecular analysis of 19 Japanese patients. - |
| Author(s) : Takano T , Shimmoto M , Fukuhara Y , Itoh K , Kase R , Takiyama N , Kobayashi T , Oshima A , Sakuraba H , Suzuki Y |
| Ref : Brain Dysfunction , 4 :271 , 1991 |
| PubMedID: |
| 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 |