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The utility of next-generation sequencing in the evaluation of the posterior polymorphous corneal dystrophy 1 locus
PURPOSE: To identify the genetic basis of posterior polymorphous corneal dystrophy 1 (PPCD1) using next-generation sequencing (NGS) of the common PPCD1 support interval, in which Sanger sequencing failed to identify a pathogenic mutation. METHODS: Enrichment of the portion of chromosome 20 containin...
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| Autori principali: | , , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Molecular Vision
2010
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3012649/ https://ncbi.nlm.nih.gov/pubmed/21203404 |
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