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TARDBP in amyotrophic lateral sclerosis: identification of a novel variant but absence of copy number variation.

Abstract:

BACKGROUND: Mutations in the gene encoding TDP-43 have been identified in both familial and sporadic amyotrophic lateral sclerosis (ALS). METHODS: A mutation screen and copy number analysis in a motor neuron disease clinic cohort was conducted to characterise the genetic contribution of TARDBP. RESULTS: A novel missense mutation in a highly conserved region of TDP-43 was identified in a patient with sporadic ALS. The mutation is in close vicinity to previously identified changes. Copy number...

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Publisher copy:
10.1136/jnnp.2008.166512

Authors


Bäumer, D More by this author
Parkinson, N More by this author
More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, Clinical Neuroscience
Journal:
Journal of neurology, neurosurgery, and psychiatry
Volume:
80
Issue:
11
Pages:
1283-1285
Publication date:
2009-11-05
DOI:
EISSN:
1468-330X
ISSN:
0022-3050
URN:
uuid:312b8d7e-862d-4846-b6f4-c08fe5f3f9c6
Source identifiers:
245216
Local pid:
pubs:245216

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