Mutational spectrum of the CTNS gene in Italy-Reference-Cited by-同舟云学术

Mutational spectrum of the CTNS gene in Italy

Published:2003-06-27 Issue:7 Volume:11 Page:503-508
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Mason Silvia,Pepe Guglielmina,Dall'Amico Roberto,Tartaglia Sara,Casciani Stefania,Greco Marcella,Bencivenga Paola,Murer Luisa,Rizzoni Gianfranco,Tenconi Romano,Clementi Maurizio

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/5200993.pdf

Reference24 articles.

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3. Cystinosis Collaborative Research Group: Linkage of the gene for cystinosis to markers on the short arm of chromosome 17. Nat Genet 1995; 10: 246–248.

4. 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.

5. Kalatzis V, Cherqui S, Antignac C, Gasnier B : Cystinosin, the protein defective in cystinosis, is a H(+)-driven lysosomal cystine transporter. EMBO J 2001; 20: 5940–5949.

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