Article
Structure-function relationships in alpha-galactosidase A.
Acta paediatrica (Oslo, Norway : 1992) - 1 Apr 2007
Garman Scott C
Abstract excerpt
UNLABELLED: With recent interest in the molecular mechanisms responsible for Fabry disease, the number of known mutations in the GLA gene which encodes alpha-galactosidase A has expanded considerably. Combining a large database of Fabry disease-causing mutations with the recently determined crystal structure of human alpha-galactosidase A allows for a new understanding of the atomic defects in the protein...
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