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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Bibliographic Details
Main Authors: Roger Pamphlett, Pak Leng Cheong, Ronald J Trent, Bing Yu
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2013-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC3716700?pdf=render