Myopathy with lactic acidosis is linked to chromosome 12q23.3-24.11 and caused by an intron mutation in the ISCU gene resulting in a splicing defect

Published 2008 View Full Article

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Title
Myopathy with lactic acidosis is linked to chromosome 12q23.3-24.11 and caused by an intron mutation in the ISCU gene resulting in a splicing defect
Authors
Keywords
-
Journal
HUMAN MOLECULAR GENETICS
Volume 17, Issue 11, Pages 1666-1672
Publisher
Oxford University Press (OUP)
Online
2008-02-25
DOI
10.1093/hmg/ddn057

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