期刊
JOURNAL OF HUMAN GENETICS
卷 56, 期 6, 页码 467-468出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/jhg.2011.31
关键词
amino-acid substitution; database; Fabry disease; alpha-galactosidase A; protein structure
资金
- Japan Society for the Promotion of Science
Fabry disease is a genetic disorder caused by a deficiency of alpha-galactosidase A (GLA). In our previous studies, we structurally investigated Fabry disease using a structural analysis system, and revealed that structural changes in GLA are very important for understanding the molecular basis of this disease. To the best of our knowledge, there is no database including the structures of mutant GLAs. Herein, we constructed a database of clinical phenotypes, genotypes and structures of mutant GLAs. This database can be accessed as 'fabry-database.org', and is user friendly, being equipped with powerful computational tools. This database will help researchers and clinicians who study Fabry disease. Journal of Human Genetics (2011) 56, 467-468; doi:10.1038/jhg.2011.31; published online 17 March 2011
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