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ANG mutations segregate with familial and...
Journal article

ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis

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.

Authors

Greenway MJ; Andersen PM; Russ C; Ennis S; Cashman S; Donaghy C; Patterson V; Swingler R; Kieran D; Prehn J

Journal

Nature Genetics, Vol. 38, No. 4, pp. 411–413

Publisher

Springer Nature

Publication Date

April 1, 2006

DOI

10.1038/ng1742

ISSN

1061-4036

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