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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:
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
Language:
English
Keywords:
Pubs id:
pubs:469145
UUID:
uuid:ad183ff2-684f-48e2-a966-2e1557de5c36
Local pid:
pubs:469145
Deposit date:
2014-06-27

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