Nephropathic cystinosis: an update on genetic conditioning
Author:
Publisher
Springer Science and Business Media LLC
Subject
Nephrology,Pediatrics, Perinatology, and Child Health
Link
https://link.springer.com/content/pdf/10.1007/s00467-020-04638-9.pdf
Reference40 articles.
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2. Kalatzis V, Antignac C (2002) Cystinosis from gene to disease. Nephrol Dial Transplant 17:1883–1886
3. The cystinosis collaborative research group (1995) Linkage of the gene for cystinosis to markers on the short of chromosome 17. Nat Genet 10:246–248
4. Town M, Jean G, Cherqui S, Attard M, Forestier L, Whitmore SA, Callen DF, Gribouval O, Broyer M, Bates GP, van’t Hoff W, Antignac C (1998) A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis. Nat Genet 18:319–324
5. Cherqui S, Courtoy PJ (2017) The renal Fanconi syndrome in cystinosis: pathogenic insights and therapeutic perspectives. Nat Rev Nephrol 13:115–131
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