Mapping the genetic and clinical characteristics of Gaucher disease in the Iberian Peninsula

BACKGROUND: Gaucher disease (GD) is due to deficiency of the glucocerebrosidase enzyme. It is panethnic, but its presentation reveals ethnicity-specific characteristics. METHODS: We evaluated the distribution, and clinical and genetic characteristics of GD patients in the Iberian Peninsula (IP). We...

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Detalles Bibliográficos
Autores principales: Giraldo, Pilar, Alfonso, Pilar, Irún, Pilar, Gort, Laura, Chabás, Amparo, Vilageliu, Lluïsa, Grinberg, Daniel, Sá Miranda, Clara M, Pocovi, Miguel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2012
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3349595/
https://www.ncbi.nlm.nih.gov/pubmed/22429443
http://dx.doi.org/10.1186/1750-1172-7-17

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3349595/
https://www.ncbi.nlm.nih.gov/pubmed/22429443
http://dx.doi.org/10.1186/1750-1172-7-17

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