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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Autori principali: Forestier, L, Jean, G, Attard, M, Cherqui, S, Lewis, C, van't Hoff, W, Broyer, M, Town, M, Antignac, C
Natura: Artigo
Lingua:Inglês
Pubblicazione: 1999
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377934/
https://ncbi.nlm.nih.gov/pubmed/10417278
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