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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...

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Detalles Bibliográficos
Autores principales: Pamphlett, Roger, Cheong, Pak Leng, Trent, Ronald J., Yu, Bing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
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