Novel homozygous ALS2 nonsense mutation (p.Gln715X) in sibs with infantile-onset ascending spastic paralysis: the first cases from northwestern Europe

Published 2008 View Full Article

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Title
Novel homozygous ALS2 nonsense mutation (p.Gln715X) in sibs with infantile-onset ascending spastic paralysis: the first cases from northwestern Europe
Authors
Keywords
-
Journal
EUROPEAN JOURNAL OF HUMAN GENETICS
Volume 16, Issue 11, Pages 1407-1411
Publisher
Springer Nature
Online
2008-06-04
DOI
10.1038/ejhg.2008.108

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