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タイトル
和文: 
英文:Database of the clinical phenotypes, genotypes and mutant arylsulfatase B structures in mucopolysaccharidosis type VI 
著者
和文: 齋藤 静司, Kazuki Ohno, 関嶋 政和, Toshihiro Suzuki, 櫻庭 均.  
英文: Seiji Saito, Kazuki Ohno, Masakazu Sekijima, Toshihiro Suzuki, Hitoshi Sakuraba.  
言語 English 
掲載誌/書名
和文: 
英文:Journal of Human Genetics 
巻, 号, ページ Vol. 57        pp. 280-282
出版年月 2012年4月 
出版者
和文: 
英文:Nature Publishing Group 
会議名称
和文: 
英文: 
開催地
和文: 
英文: 
公式リンク http://www.ncbi.nlm.nih.gov/pubmed/22336888
 
DOI https://doi.org/10.1038/jhg.2012.6
アブストラクト Mucopolysaccharidosis type VI (MPS VI) is a genetic disorder caused by a deficiency of arylsulfatase B (ARSB). In our previous study, we investigated the structural changes in ARSB caused by amino acid substitutions associated with MPS VI, and revealed that such structural changes in ARSB were correlated with the clinical phenotypes. To the best of our knowledge, there is no database containing the structures of mutant ARSBs. Here, we built a database of clinical phenotypes, genotypes and structures of mutant ARSBs (http://mps6-database.org). This database can be accessed via the Internet, and is user friendly being equipped with powerful computational tools. This database will be useful for a better understanding of MPS VI.

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