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New perspective in diagnostics of mitochondrial disorders: two years’ experience with whole-exome sequencing at a national paediatric centre
BACKGROUND: Whole-exome sequencing (WES) has led to an exponential increase in identification of causative variants in mitochondrial disorders (MD). METHODS: We performed WES in 113 MD suspected patients from Polish paediatric reference centre, in whom routine testing failed to identify a molecular...
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Publicado no: | J Transl Med |
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Main Authors: | , , , , , , , , , , , , , , , |
Formato: | Artigo |
Idioma: | Inglês |
Publicado em: |
BioMed Central
2016
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Assuntos: | |
Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4903158/ https://ncbi.nlm.nih.gov/pubmed/27290639 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12967-016-0930-9 |
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