Gaucher disease: a pyrosequencing frequency analysis of the N370S and L444P mutations in the Spanish population

Authors

  • B García-Rodríguez,

    1. Translational Research Unit, Miguel Servet University Hospital, Zaragoza, Spain
    2. Fundación Española para el Estudio y la Terapéutica de la Enfermedad de Gaucher (FEETEG), Zaragoza, Spain
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  • P Alfonso,

    1. Translational Research Unit, Miguel Servet University Hospital, Zaragoza, Spain
    2. Fundación Española 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
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  • M Mallén,

    1. Department of Biochemistry, Molecular and Cellular Biology, University of Zaragoza, Zaragoza, Spain
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  • M Pocoví,

    1. Fundación Española para el Estudio y la Terapéutica de la Enfermedad de Gaucher (FEETEG), Zaragoza, Spain
    2. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Zaragoza, Spain
    3. Aragon Health Sciences Institute (I+CS), Zaragoza, Spain
    4. Department of Biochemistry, Molecular and Cellular Biology, University of Zaragoza, Zaragoza, Spain
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  • P Giraldo

    Corresponding author
    1. Translational Research Unit, Miguel Servet University Hospital, Zaragoza, Spain
    2. Fundación Española 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 Haematology, Miguel Servet University Hospital, Zaragoza, Spain
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Pilar Giraldo, MD, PhD
Traslational Research Unit
Hospital Universitario Miguel Servet
P° Isabel La Católica 1-3
50009 Zaragoza
Spain
Tel.: +34 670285339
Fax: +34 976468041
e-mail: giraldo.p@gmail.com

No abstract is available for this article.

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