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C9orf72 Hexanucleotide Repeat Expansions in Clinical Alzheimer Disease

1 Jun 2013

Abstract excerpt

IMPORTANCE: Hexanucleotide repeat expansions in the chromosome 9 open reading frame 72 (C9orf72) gene underlie a significant fraction of frontotemporal dementia and amyotrophic lateral sclerosis. OBJECTIVE: To investigate the frequency of C9orf72 repeat expansions in clinically diagnosed late-onset Alzheimer disease (AD). DESIGN, SETTING, AND PATIENTS: This case-control study genotyped the C9orf72 repeat...

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PMID: 23588422
DOI: 10.1001/2013.jamaneurol.537

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