A novel mutation of the RRM2B gene in an infant with early fatal encephalomyopathy, central hypomyelination, and tubulopathy

Title
A novel mutation of the RRM2B gene in an infant with early fatal encephalomyopathy, central hypomyelination, and tubulopathy
Authors
Keywords
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Journal
MOLECULAR GENETICS AND METABOLISM
Volume 98, Issue 3, Pages 300-304
Publisher
Elsevier BV
Online
2009-06-26
DOI
10.1016/j.ymgme.2009.06.012

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