July 2, 2014Open Access

Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies

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Abstract

Exome sequencing enhances the ability to identify potential nuclear gene mutations in patients with biochemically defined defects affecting multiple mitochondrial respiratory chain complexes. Additional study is required in independent patient populations to determine the utility of this approach in comparison with traditional diagnostic methods.

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Taylor et al. (Wed,) studied this question.

synapsesocial.com/papers/69dabea84e9a02dbaa6842be https://doi.org/https://doi.org/10.1001/jama.2014.7184

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