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“Transcriptomics”: molecular diagnosis of inborn errors of metabolism via RNA-sequencing
Exome wide sequencing techniques have revolutionized molecular diagnostics in patients with suspected inborn errors of metabolism or neuromuscular disorders. However, the diagnostic yield of 25–60% still leaves a large fraction of individuals without a diagnosis. This indicates a causative role for...
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| Publicado no: | J Inherit Metab Dis |
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| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Springer Netherlands
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5959960/ https://ncbi.nlm.nih.gov/pubmed/29372369 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10545-017-0133-4 |
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