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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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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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King Faisal Specialist Hospital and Research Centre
2015
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6074127/ https://www.ncbi.nlm.nih.gov/pubmed/26336018 http://dx.doi.org/10.5144/0256-4947.2015.127 |