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Gaucher disease: a pyrosequencing frequency analysis of the N370S and L444P mutations in the Spanish population
Authors:García-Rodríguez B  Alfonso P  Mallén M  Pocoví M  Giraldo P
Affiliation:1. Translational Research Unit, Miguel Servet University Hospital, Zaragoza, Spain;2. Fundación Espa?ola para el Estudio y la Terapéutica de la Enfermedad de Gaucher (FEETEG), Zaragoza, Spain;3. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Zaragoza, Spain;4. Aragon Health Sciences Institute (I+CS), Zaragoza, Spain;5. Department of Biochemistry, Molecular and Cellular Biology, University of Zaragoza, Zaragoza, Spain;6. Department of Haematology, Miguel Servet University Hospital, Zaragoza, Spain
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