The Role of Next-Generation Sequencing in the Diagnosis of Lysosomal Storage Disorders
Next-generation sequencing (NGS) panels are used widely in clinical diagnostics to identify genetic causes of various monogenic disease groups including neurometabolic disorders and, more recently, lysosomal storage disorders (LSDs). Many new challenges have been introduced through these new technol...
محفوظ في:
| المؤلفون الرئيسيون: | , , |
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| التنسيق: | Artigo |
| اللغة: | Inglês |
| منشور في: |
Latin American Society Inborn Errors and Neonatal Screening (SLEIMPN); Instituto Genética para Todos (IGPT)
2016-10-01
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| سلاسل: | Journal of Inborn Errors of Metabolism and Screening |
| الوصول للمادة أونلاين: | https://doi.org/10.1177/2326409816669376 |
| الوسوم: |
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