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Genetic basis of cystinosis in Turkish patients: a single-center experience.
Pediatr Nephrol. 2012 Jan;27(1):115-21. doi: 10.1007/s00467-011-1942-6. Epub 2011 Jul 24.
Pediatr Nephrol. 2012.
PMID: 21786142
Free PMC article.
Analysis of the CTNS gene in patients of German and Swiss origin with nephropathic cystinosis.
Kiehntopf M, Schickel J, Gönne Bv, Koch HG, Superti-Furga A, Steinmann B, Deufel T, Harms E.
Kiehntopf M, et al.
Hum Mutat. 2002 Sep;20(3):237. doi: 10.1002/humu.9063.
Hum Mutat. 2002.
PMID: 12204010
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A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis.
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.
Town M, et al.
Nat Genet. 1998 Apr;18(4):319-24. doi: 10.1038/ng0498-319.
Nat Genet. 1998.
PMID: 9537412
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Analysis of the CTNS gene in 32 cystinosis patients from Spain.
Macías-Vidal J, Rodés M, Hernández-Pérez JM, Vilaseca MA, Coll MJ.
Macías-Vidal J, et al.
Clin Genet. 2009 Nov;76(5):486-9. doi: 10.1111/j.1399-0004.2009.01222.x.
Clin Genet. 2009.
PMID: 19863563
No abstract available.
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