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A Novel PRPF31 Mutation in a Large Chinese Family with Autosomal Dominant Retinitis Pigmentosa and Macular Degeneration
PURPOSE: This study was intended to identify the disease causing genes in a large Chinese family with autosomal dominant retinitis pigmentosa and macular degeneration. METHODS: A genome scan analysis was conducted in this family for disease gene preliminary mapping. Snapshot analysis of selected SNP...
Αποθηκεύτηκε σε:
| Κύριοι συγγραφείς: | , , , , , , , , , , , , , , , |
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| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Public Library of Science
2013
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3823919/ https://ncbi.nlm.nih.gov/pubmed/24244300 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0078274 |
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