Clinical utility gene card for: Cystinosis
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://www.nature.com/articles/ejhg2013204.pdf
Reference23 articles.
1. Town M, Jean G, Cherqui S et al: A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis. Nat Genet 1998; 18: 319–324.
2. Forestier L, Jean G, Attard M et al: Molecular characterization of CTNS deletions in nephropathic cystinosis: development of a PCR-based detection assay. Am J Hum Genet 1999; 65: 353–359.
3. Kalatzis V, Cohen-Solal L, Cordier B et al: Identification of 14 novel CTNS mutations and characterization of seven splice site mutations associated with cystinosis. Hum Mutat 2002; 20: 439–446.
4. Mason S, Pepe G, Dall'Amico R et al: Mutational spectrum of the CTNS gene in Italy. Eur J Hum Genet 2003; 11: 503–508.
5. Phornphutkul C, Anikster Y, Huizing M et al: The promoter of a lysosomal membrane transporter gene, CTNS, binds Sp-1, shares sequences with the promoter of an adjacent gene, CARKL, and causes cystinosis if mutated in a critical region. Am J Hum Genet 2001; 69: 712–721.
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