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Exome Sequencing Reveals Novel and Recurrent Mutations with Clinical Significance in Inherited Retinal Dystrophies
This study aimed to identify the underlying molecular genetic cause in four Spanish families clinically diagnosed of Retinitis Pigmentosa (RP), comprising one autosomal dominant RP (adRP), two autosomal recessive RP (arRP) and one with two possible modes of inheritance: arRP or X-Linked RP (XLRP). W...
में बचाया:
| में प्रकाशित: | PLoS One |
|---|---|
| मुख्य लेखकों: | , , , , , , |
| स्वरूप: | Artigo |
| भाषा: | Inglês |
| प्रकाशित: |
Public Library of Science
2014
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| विषय: | |
| ऑनलाइन पहुंच: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4278866/ https://ncbi.nlm.nih.gov/pubmed/25544989 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0116176 |
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