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  • Claudia Raggi, Alessandro Bassi Luciani, Nathalie Névo, Corinne Antignac, Sara Terryn, Olivier Devuyst
  • Biology, Medicine
  • Human molecular genetics
  • 2014 (First Publication: 1 May 2014)
  • Nephropathic cystinosis, a lysosomal storage disease caused by mutations in the CTNS gene encoding the lysosomal cystine transporter cystinosin, is characterized by generalized proximal tubule (PT)Continue Reading
  • Teresa Ieranò, Paola Cescutti, +8 authors Antonio Molinaro
  • Biology, Medicine
  • Innate immunity
  • 2010 (First Publication: 1 December 2010)
  • Cystic fibrosis is an autosomal recessive disorder and it is characterised by chronic bacterial airway infection which leads to progressive lung deterioration, sometimes with fatal outcome.Continue Reading