Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model.
Many neurological conditions are caused by immensely heterogeneous gene mutations. The diagnostic process is often long and complex with most patients undergoing multiple invasive and costly investigations without ever reaching a conclusive molecular diagnosis. The advent of massively parallel, next...
Principais autores: | , , , , , , , , , , , , , , , , , , , , , , , , |
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Formato: | Journal article |
Idioma: | English |
Publicado em: |
2013
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