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...

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Detalles Bibliográficos
Autores principales: Ortiz-Cabrera, N.V., Gallego-Merlo, J., Vélez-Monsalve, C., de Nicolas, R., Mas, S. Fontao, Ayuso, C., Trujillo-Tiebas, M.J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2016
Materias:
Research Paper
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

Internet

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

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