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Molecular characterization of CTNS deletions in nephropathic cystinosis: development of a PCR-based detection assay.
Nephropathic cystinosis is an autosomal recessive disorder that is characterized by accumulation of intralysosomal cystine and is caused by a defect in the transport of cystine across the lysosomal membrane. Using a positional cloning strategy, we recently cloned the causative gene, CTNS, and identi...
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| Główni autorzy: | , , , , , , , , |
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| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
1999
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| Hasła przedmiotowe: | |
| Dostęp online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1377934/ https://ncbi.nlm.nih.gov/pubmed/10417278 |
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