Gaucher disease in Syrian children: common mutations identification and clinical futures
BACKGROUND AND OBJECTIVES: Gaucher disease (GD) is caused by the deficiency of glucosidase beta acid (GBA). Three clinical forms of GD are available. Some mutations in the GBA gene have a high frequency in specific populations. The aim of this study was to analyze the characteristics of phenotypes a...
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| Format: | Article |
| Language: | English |
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King Faisal Specialist Hospital and Research Centre
2015-03-01
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| Series: | Annals of Saudi Medicine |
| Online Access: | https://www.annsaudimed.net/doi/full/10.5144/0256-4947.2015.127 |