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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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| 主要な著者: | , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
BioMed Central
2000
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| 主題: | |
| オンライン･アクセス: | 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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