Associated Papers
Clinical Variability and Genotype-Phenotype Correlation in Spanish Patients with Type 1 Gaucher Disease: A Focus on Non-c.[1226A>G]; [1448T>C] Genotypes.
Serrano-Gonzalo I et al.
International Journal of Molecular Sciences, 2025
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
Hematologically important mutations: Gaucher disease.
Beutler E et al.
Blood Cells, Molecules & Diseases, 0
Gaucher disease among Chinese patients: review on genotype/phenotype correlation from 29 patients and identification of novel and rare alleles.
Choy FY et al.
Blood Cells, Molecules & Diseases, 0
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