The functional analysis of rare genetic variants in a familial neurodegenerative spectrum disorder
<p>Whole genome sequencing can enable an unbiased approach to the diagnosis and to the understanding of genetic aetiology of neurodegenerative diseases, which are a clinically and genetically heterogeneous group of disorders. Two brothers, originally diagnosed with primary progressive multipl...
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| Format: | Thesis |
| Language: | English |
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2018
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