Background: Gaucher’s disease (GD) is an autosomal recessive genetic disorder that results from pathogenic mutations of GBA gene encoding the enzyme glucocerebrosidase (acid β-glucosidase). Of the approximately 300 mutations associated with GD, 4 accounts for the majority of mutations seen in GD pat...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
SpringerOpen
2017-07-01
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| Series: | Egyptian Journal of Medical Human Genetics |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1110863016300696 |