Identification and Characterisation of the Murine Homologue of the Gene Responsible for Cystinosis, Ctns

BACKGROUND: Cystinosis is an autosomal recessive disorder characterised by an intralysosomal accumulation of cystine, and affected individuals progress to end-stage renal failure before the age of ten. The causative gene, CTNS, was cloned in 1998 and the encoded protein, cystinosin, was predicted to...

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Bibliografiske detaljer
Main Authors: Cherqui, Stéphanie, Kalatzis, Vasiliki, Forestier, Lionel, Poras, Isabelle, Antignac, Corinne
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2000
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC29086/
https://ncbi.nlm.nih.gov/pubmed/11121245
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2164-1-2
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