Journal article
Autosomal dominant inheritance of rapidly progressive amyotrophic lateral sclerosis due to a truncation mutation in the fused in sarcoma (FUS) gene.
- Abstract:
-
Mutations in the gene encoding the RNA-binding protein fused in sarcoma (FUS) account for 4 - 5% of familial cases of amyotrophic lateral sclerosis (ALS). We describe the identification and in vitro cellular characterization of a genetic mutation in a family in which the index case, and subsequently her two children, each developed rapidly progressive ALS at a young age and died within a year of onset. Exome capture and sequencing revealed a mutation in the FUS gene consisting of a 2-bp delet...
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- Publication status:
- Published
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- Publisher copy:
- 10.3109/21678421.2014.920033
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Authors
Bibliographic Details
- Publisher:
- Informa Healthcare
- Journal:
- Amyotrophic lateral sclerosis and frontotemporal degeneration
- Volume:
- 15
- Issue:
- 7-8
- Pages:
- 557-562
- Publication date:
- 2014-12-01
- DOI:
- EISSN:
-
2167-9223
- ISSN:
-
2167-8421
- Source identifiers:
-
469145
Item Description
- Language:
- English
- Keywords:
- Pubs id:
-
pubs:469145
- UUID:
-
uuid:ad183ff2-684f-48e2-a966-2e1557de5c36
- Local pid:
- pubs:469145
- Deposit date:
- 2014-06-27
Terms of use
- Copyright date:
- 2014
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