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Gaucher disease: Biochemical and molecular findings in 141 patients diagnosed in Greece
Gaucher disease (GD) is characterized by a marked phenotypic and genetic diversity. It is caused by the functional deficiency of the lysosomal enzyme β-glucocerebrosidase (GCase), which in most instances results from mutations in the GBA1 gene and over 500 different disease causing mutations have be...
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| Опубликовано в: : | Mol Genet Metab Rep |
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| Главные авторы: | , , , , , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
Elsevier
2020
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7284128/ https://ncbi.nlm.nih.gov/pubmed/32547927 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2020.100614 |
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