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Publication
Next Generation Sequencing Improves Mitochondrial Diseases Diagnosis
| Name: | Description: | Size: | Format: | |
|---|---|---|---|---|
| 4.05 MB | Adobe PDF |
Advisor(s)
Abstract(s)
Objectives: The overall aim of our research project was to develop a Next Generation Sequencing strategy to identify nuclear disease causing-mutations in patients suspicious of mitochondrial disorders but without molecular etiology.
Description
Abstract publicado em: Journal of Inborn Errors of Metabolism and Screening (Special Supplement), 2017.
Keywords
Doenças Genéticas NGS Mitochondrial diseases