A synonymous change, p.Gly16Gly in MECP2 Exon 1, causes a cryptic splice event in a Rett Syndrome patient

Published 2013 View Full Article

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Title
A synonymous change, p.Gly16Gly in MECP2 Exon 1, causes a cryptic splice event in a Rett Syndrome patient
Authors
Keywords
Cryptic splice site, Synonymous mutation, <em class=EmphasisTypeItalic >MECP2</em>, exon 1, Rett syndrome, Silent mutation, Frame-shift mutation
Journal
Orphanet Journal of Rare Diseases
Volume 8, Issue 1, Pages 108
Publisher
Springer Nature
Online
2013-07-19
DOI
10.1186/1750-1172-8-108

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