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Validation of a Long-Read PCR Assay for Sensitive Detection and Sizing of C9orf72 Hexanucleotide Repeat Expansions
A hexanucleotide GGGGCC repeat expansion in C9orf72 is the most common genetic cause of amyotrophic lateral sclerosis and frontotemporal degeneration. Accurate determination and quantitation of the repeat length is critical in both clinical and research settings. However, because of the complexity o...
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| Publicado no: | J Mol Diagn |
|---|---|
| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
American Society for Investigative Pathology
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6222278/ https://ncbi.nlm.nih.gov/pubmed/30138726 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jmoldx.2018.07.001 |
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