Associated Papers
Nine-year experience in Gaucher disease diagnosis at the Spanish reference center Fundación Jiménez Díaz.
Ortiz-Cabrera NV et al.
Molecular Genetics and Metabolism Reports, 2016
Characterization of the c.(-203)A>G variant in the glucocerebrosidase gene and its association with phenotype in Gaucher disease.
Alfonso P et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2011
Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).
Hruska KS et al.
Human Mutation, 2008
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