Identification and Characterisation of the Murine Homologue of the Gene Responsible for Cystinosis, Ctns |
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| Authors: | Stéphanie Cherqui Vasiliki Kalatzis Lionel Forestier Isabelle Poras Corinne Antignac |
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| Institution: | 1. H?pital Necker-Enfants Malades, Inserm U423,Université René Descartes, 75743, Paris Cedex 15, France
2. Genoscope, Centre National de Séquen?age, 91057, Evry Cedex, France
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| Abstract: | Background Cystinosis is an autosomal recessive disorder characterised by an intralysosomal accumulation of cystine, and affected individuals progress to end-stage renal failure before the age of ten. The causative gene, CTNS, was cloned in 1998 and the encoded protein, cystinosin, was predicted to be a lysosomal membrane protein. |
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