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Updated: Jul 28, 2026

Spectral Karyotyping to Study Chromosome Abnormalities in Humans and Mice with Polycystic Kidney Disease
Published on: February 3, 2012
Mutations of CTNS causing intermediate cystinosis
J Thoene1, R Lemons, Y Anikster
1Department of Pediatrics, University of Michigan, Ann Arbor 48109-0408, USA. jthoene@umich.edu
Abstract:
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.
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