Exome sequencing reveals a homozygous mutation in TWINKLE as the cause of multisystemic failure including renal tubulopathy in three siblings

Published 2013 View Full Article

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Title
Exome sequencing reveals a homozygous mutation in TWINKLE as the cause of multisystemic failure including renal tubulopathy in three siblings
Authors
Keywords
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Journal
MOLECULAR GENETICS AND METABOLISM
Volume 108, Issue 3, Pages 190-194
Publisher
Elsevier BV
Online
2013-01-01
DOI
10.1016/j.ymgme.2012.12.007

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