Exon Deletion in the Non-catalytic Domain of eIF2Bɛ Due to a Splice Site Mutation Leads to Infantile Forms of CACH/VWM with Severe Decrease of eIF2B GEF Activity

Title
Exon Deletion in the Non-catalytic Domain of eIF2Bɛ Due to a Splice Site Mutation Leads to Infantile Forms of CACH/VWM with Severe Decrease of eIF2B GEF Activity
Authors
Keywords
-
Journal
ANNALS OF HUMAN GENETICS
Volume 72, Issue 3, Pages 410-415
Publisher
Wiley
Online
2008-02-22
DOI
10.1111/j.1469-1809.2007.00427.x

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