Molecular analysis and expression of the human glucocerebrosidase gene
Gaucher disease is the most prevalent lysosomal lipid storage disease caused by deficient glucocerebrosidase activity. It is transmitted as an autosomal recessive trait. Three clinical forms of Gaucher disease have been described: type 1, non-neuronopathic; type 2, acute neuronopathic; and type 3, s...
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| Format: | Others |
| Language: | English en |
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2017
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| Online Access: | https://dspace.library.uvic.ca//handle/1828/8685 |