Articles with "testing laboratories" as a keyword



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The C9orf72 hexanucleotide repeat expansion presents a challenge for testing laboratories and genetic counseling

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Published in 2019 at "Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration"

DOI: 10.1080/21678421.2019.1588904

Abstract: Abstract C9orf72 hexanucleotide repeat expansions are the most common known cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Genetic testing for C9orf72 expansions in patients with ALS and/or FTD and their relatives has… read more here.

Keywords: repeat; testing laboratories; c9orf72; c9orf72 hexanucleotide ... See more keywords