Occipital horn syndrome and classical Menkes Syndrome caused by deep intronic mutations, leading to the activation of ATP7A pseudo-exon

Published 2013 View Full Article

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Title
Occipital horn syndrome and classical Menkes Syndrome caused by deep intronic mutations, leading to the activation of ATP7A pseudo-exon
Authors
Keywords
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Journal
EUROPEAN JOURNAL OF HUMAN GENETICS
Volume 22, Issue 4, Pages 517-521
Publisher
Springer Nature
Online
2013-09-04
DOI
10.1038/ejhg.2013.191
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