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Nine-year experience in Gaucher disease diagnosis at the Spanish reference center Fundación Jiménez Díaz
BACKGROUND: Fundación Jiménez Díaz (FJD) is a reference center for genetic diagnosis of Gaucher disease (GD) in Spain. Genetic analyses of acid β-glucosidase (GBA) gene using different techniques were performed to search for new mutations, in addition to those previously and most frequently found in...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2016
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5109262/ https://www.ncbi.nlm.nih.gov/pubmed/27872820 http://dx.doi.org/10.1016/j.ymgmr.2016.06.008 |