Cystinosis: from gene to disease.

Vasiliki Kalatzis, Corinne Antignac

Journal: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2003;17(11):1883-6

PMID: 12401840

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Abstract

Address: Inserm U423, Département de Génétique, Université René Descartes, Hôpital Necker-Enfants Malades, Paris, France. [email protected]

DOI: 10.1093/ndt/17.11.1883

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MeSH Terms: Amino Acid Transport Systems, Neutral, Cystine, Cystinosis, Glycoproteins, Humans, Membrane Proteins, Membrane Transport Proteins, Mutation