Mutations of CTNS causing intermediate cystinosis

Jess Thoene*, Rosemary Lemons, Yair Anikster, Jodi Mullet, Karen Paelicke, Cynthia Lucero, William Gahl, Jerry Schneider, S. G. Shu, H. Thomas Campbell

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review


Six patients with the intermediate form of cystinosis are described. Two have new mutations not previously described. The disease occurs due either to the combination of one mild mutation and one which is known to cause nephropathic cystinosis or to homozygosity for a predicted mild mutation. Partial phenotypic correction of cystinotic fibroblasts by transfection with normal cDNA or a cDNA derived from a mutation causing intermediate cystinosis is demonstrated.

Original languageEnglish
Pages (from-to)283-293
Number of pages11
JournalMolecular Genetics and Metabolism
Issue number4
StatePublished - Aug 1999


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