Abbreviations
- CTNS :
-
Cystinosin
- Ser:
-
Serine
- Phe:
-
Phenylalanine
References
Emma F, Nesterova G, Langman C, et al. Nephropathic cystinosis: an international consensus document. Nephrol Dial Transplant. 2014;29:iv87–94.
Aldahmesh MA, Humeidan A, Almojalli HA, et al. Characterization of CTNS mutations in Arab patients with cystinosis. Ophthalmic Genet. 2009;30:185–9.
Owen EP, Nandhlal J, Leisegang F, Van der Watt G, Nourse P, Gajjar P. Common mutation causes cystinosis in the majority of black south African patients. Pediatr Nephrol. 2015;30:595–601.
Swaminathan K, Jeyaraman M. Cystinosis: an “eye opener”. Apollo Med. 2014;11:43–5.
Kalatzis V, Nevo N, Cherqui S, Gasnier B, Antignac C. Molecular pathogenesis of cystinosis: effect of CTNS mutations on the transport activity and subcellular localization of cystinosin. Hum Mol Genet. 2004;13:1361–71.
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AAD is a Senior Research Fellow funded by the Cystinosis Research Foundation, USA, & Government of India. AKB is the recipient of a JC Bose National Fellowship from Department of Biotechnology, Government of India. The work was partially supported by the Cystinosis Research Foundation, USA.
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Deshpande, A.A., Ravichandran, R. & Bachhawat, A.K. Molecular Analysis of the CTNS Gene in Indians with Nephropathic Cystinosis. Indian J Pediatr 84, 240–241 (2017). https://doi.org/10.1007/s12098-016-2257-1
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DOI: https://doi.org/10.1007/s12098-016-2257-1