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Next generation sequencing as second-tier test in high-throughput newborn screening for nephropathic cystinosis
Nephropathic cystinosis is a rare autosomal recessive lysosomal storage disorder, which causes loss of renal proximal tubular function and progressive loss of glomerular function, finally leading to end stage renal failure at school age. In the course of the disease most patients will need kidney tr...
Enregistré dans:
| Publié dans: | Eur J Hum Genet |
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| Auteurs principaux: | , , , , , , , , , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
Springer International Publishing
2019
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6974606/ https://ncbi.nlm.nih.gov/pubmed/31570786 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-019-0521-3 |
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