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Experience of targeted Usher exome sequencing as a clinical test
We show that massively parallel targeted sequencing of 19 genes provides a new and reliable strategy for molecular diagnosis of Usher syndrome (USH) and nonsyndromic deafness, particularly appropriate for these disorders characterized by a high clinical and genetic heterogeneity and a complex struct...
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| Autors principals: | , , , , , , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Wiley Periodicals
2014
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3907913/ https://ncbi.nlm.nih.gov/pubmed/24498627 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.25 |
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