de novo RYR1 heterozygous mutation (I4898T) causing lethal core–rod myopathy in twins

Published 2010 View Full Article

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Title
de novo RYR1 heterozygous mutation (I4898T) causing lethal core–rod myopathy in twins
Authors
Keywords
-
Journal
European Journal of Medical Genetics
Volume 54, Issue 1, Pages 29-33
Publisher
Elsevier BV
Online
2010-10-02
DOI
10.1016/j.ejmg.2010.09.009

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