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      Permanent link:
      https://www.ias.ac.in/article/fulltext/jgen/097/05/1469-1472

    • Keywords

       

      ZFYVE26 gene; hereditary spastic paraplegias; next-generation sequencing.

    • Abstract

       

      Hereditary spastic paraplegias are clinically and genetically heterogeneous degenerative disorders, and pathological variants in the autosomal recessive ZFYVE26 gene are considered as very rare causes. We describe a novel mutation in ZFYVE26 gene found in a patient with autosomal recessive spastic paraplegias. The use of a ‘target-gene’ approach allowed us to expand the clinical spectrum associated with hereditary spastic paraplegias.

    • Author Affiliations

       

      MIRELLA VINCI1 MARCO FICHERA1 2 SEBASTIANO ANTONINOMUSUMECI1 FRANCESCO CALI1 GIROLAMO AURELIO VITELLO1

      1. Oasi Research Institute-IRCCS, Troina 94018, Italy
      2. Department of Biomedical and Biotechnological Sciences, Medical Genetics, University of Catania, Catania 95100, Italy
    • Dates

       
  • Journal of Genetics | News

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