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Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis

Abstract:

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder. We screened 751 familial ALS patient whole-exome sequences and identified six mutations including p.D40G in the ANXA11 gene in 13 individuals. The p.D40G mutation was absent from 70,000 control whole-exome sequences. This mutation segregated with disease in two kindreds and was present in another two unrelated cases (P = 0.0102), and all mutation carriers shared a common founder haplotype. Annexin A11-positive protein ...

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Publication status:
Published
Peer review status:
Peer reviewed
Version:
Accepted Manuscript

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Publisher copy:
10.1126/scitranslmed.aad9157

Authors


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Middlemass family More from this funder
Heaton-Ellis Trust More from this funder
Motor Neurone Disease Association More from this funder
Medical Research Council More from this funder
Psychiatry Research Trust of the Institute of Psychiatry More from this funder
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Publisher:
American Association for the Advancement of Science Publisher's website
Journal:
Science Translational Medicine Journal website
Volume:
9
Issue:
388
Pages:
Article: eaad9157
Publication date:
2017-05-03
Acceptance date:
2017-01-04
DOI:
EISSN:
1946-6242
ISSN:
1946-6234
Pubs id:
pubs:693961
URN:
uri:09b3522e-fa85-4747-9815-478ac8322a9d
UUID:
uuid:09b3522e-fa85-4747-9815-478ac8322a9d
Local pid:
pubs:693961
Paper number:
388
Language:
English
Keywords:

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