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Can ALS-Associated C9orf72 Repeat Expansions Be Diagnosed on a Blood DNA Test Alone?
Gene mutations that preferentially affect the CNS have been implicated in a number of neurological disorders. This leads to the possibility that a disease-causing mutation present only in CNS tissues could be missed if it were tested in a blood DNA sample only. The commonest mutation in amyotrophic...
Autores principales: | Pamphlett, Roger, Cheong, Pak Leng, Trent, Ronald J., Yu, Bing |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2013
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3716700/ https://www.ncbi.nlm.nih.gov/pubmed/23894576 http://dx.doi.org/10.1371/journal.pone.0070007 |
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