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Fig. 1 | Orphanet Journal of Rare Diseases

Fig. 1

From: Cystinosis: a review

Fig. 1

Schematic representation of the CTNS gene and all reported mutations in cystinosis patients. Exonic mutations are displayed in the lower half of the figure, while promoter and intronic mutations and large deletions are displayed in the upper half. INC: infantile nephropathic cystinosis, JNC: juvenile nephropathic cystinosis, OC: ocular cystinosis

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172