| Literature DB >> 16501576 |
Matthew J Greenway1, Peter M Andersen, Carsten Russ, Sean Ennis, Susan Cashman, Colette Donaghy, Victor Patterson, Robert Swingler, Dairin Kieran, Jochen Prehn, Karen E Morrison, Andrew Green, K Ravi Acharya, Robert H Brown, Orla Hardiman.
Abstract
We recently identified angiogenin (ANG) as a candidate susceptibility gene for amyotrophic lateral sclerosis (ALS), a neurodegenerative disorder characterized by adult-onset loss of motor neurons. We now report the finding of seven missense mutations in 15 individuals, of whom four had familial ALS and 11 apparently 'sporadic' ALS. Our findings provide further evidence that variations in hypoxia-inducible genes have an important role in motor neuron degeneration.Entities:
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Year: 2006 PMID： 16501576 DOI： 10.1038/ng1742
Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330