title: Cystinosis: from gene to disease.
authors.affiliation: Inserm U423, Département de Génétique, Université René Descartes, Hôpital Necker-Enfants Malades, Paris, France. kalatzis@igni.cnrs-mop.fr
authors.forename: Vasiliki
authors.initials: V
authors.lastname: Kalatzis
authors.forename: Corinne
authors.initials: C
authors.lastname: Antignac
mesh_terms: D026921:Amino Acid Transport Systems, Neutral; D003553:Cystine / Q000378:metabolism; D003554:Cystinosis / Q000235:genetics* / Q000378:metabolism; D006023:Glycoproteins; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics* / Q000378:metabolism; D026901:Membrane Transport Proteins; D009154:Mutation
chemical_list: D026921:Amino Acid Transport Systems, Neutral; C111445:CTNS protein, human; D006023:Glycoproteins; D008565:Membrane Proteins; D026901:Membrane Transport Proteins; D003553:Cystine