“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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Detalles Bibliográficos
Autores principales: Kremer, Laura S., Wortmann, Saskia B., Prokisch, Holger
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Netherlands 2018
Materias:
Transcriptomics
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

Internet

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

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