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Publication
Molecular Diagnosis of Mitochondrial Disease with Targeted Next Generation Sequencing: a COhoRT of 250 patients
| Name: | Description: | Size: | Format: | |
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| 504.37 KB | Adobe PDF |
Advisor(s)
Abstract(s)
Objectives: The purpose of our project was to develop a NGS strategy to identify the genetic defects
in 250 patients suspicious of mitochondrial disorders, to confirm the clinical and
biochemical diagnosis of the disease.
Description
Keywords
Mitochondrial Disorders Next Generation Sequencing Molecular Diagnosis Doenças Genéticas