Aberrant splicing induced by the most common EPG5 mutation in an individual with Vici syndrome.

Megan S Kane Thierry Vilboux Lynne A Wolfe Paul R Lee Yupeng Wang Kathi C Huddleston Joseph G Vockley John E Niederhuber Benjamin D Solomon

Brain

1 Inova Translational Medicine Institute, Inova Health System, 3300 Gallows Road, Falls Church, Virginia 22042, USA 4 Department of Pediatrics, Virginia Commonwealth University School of Medicine, 1201 E Marshall St, Richmond, Virginia 23298, USA 6 Inova Children's Hospital, Inova Health System, 3300 Gallows Road, Falls Church, Virginia 22042, USA.

Published: September 2016

Download full-text PDF	Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5841196	PMC
http://dx.doi.org/10.1093/brain/aww135	DOI Listing

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