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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Detalhes bibliográficos

Publicado no:	BMC Genomics
Principais autores:	Cherqui, Stéphanie, Kalatzis, Vasiliki, Forestier, Lionel, Poras, Isabelle, Antignac, Corinne
Formato:	Artigo
Idioma:	Inglês
Publicado em:	BMC 2000
Assuntos:	Research Article
Acesso em linha:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC29086/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/11121245/ https://ncbi.nlm.nih.govhttps://doi.org/10.1186/1471-2164-1-2
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