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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...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Springer Netherlands
2018
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5959960/ https://www.ncbi.nlm.nih.gov/pubmed/29372369 http://dx.doi.org/10.1007/s10545-017-0133-4 |