Molecular pathogenesis of cystinosis: effect of CTNS mutations on the transport activity and subcellular localization of cystinosin

Author: Kalatzis Vasiliki   Nevo Nathalie   Cherqui Stéphanie   Antignac Corinne  

Publisher: Oxford University Press

ISSN: 1460-2083

Source: Human Molecular Genetics, Vol.13, Iss.13, 2004-07, pp. : 1361-1371

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Abstract