Single point mutation in Rabenosyn-5 in a female with intractable seizures and evidence of defective endocytotic trafficking
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| Format: | Online |
| Language: | English |
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BioMed Central
2014
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| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4177245/ |
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pubmed-4177245 |
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pubmed-41772452014-09-29 Single point mutation in Rabenosyn-5 in a female with intractable seizures and evidence of defective endocytotic trafficking Stockler, Sylvia Corvera, Silvia Lambright, David Fogarty, Kevin Nosova, Ekaterina Leonard, Deborah Steinfeld, Robert Ackerley, Cameron Shyr, Casper Au, Nicolas Selby, Kathrin van Allen, Margot Vallance, Hilary Wevers, Ron Watkins, David Rosenblatt, David Ross, Colin J Conibear, Elizabeth Wasserman, Wyeth van Karnebeek, Clara Research BioMed Central 2014-09-20 /pmc/articles/PMC4177245/ /pubmed/25233840 http://dx.doi.org/10.1186/s13023-014-0141-5 Text en © Stockler et al.; licensee BioMed Central Ltd. 2014 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated. |
| repository_type |
Open Access Journal |
| institution_category |
Foreign Institution |
| institution |
US National Center for Biotechnology Information |
| building |
NCBI PubMed |
| collection |
Online Access |
| language |
English |
| format |
Online |
| author |
Stockler, Sylvia Corvera, Silvia Lambright, David Fogarty, Kevin Nosova, Ekaterina Leonard, Deborah Steinfeld, Robert Ackerley, Cameron Shyr, Casper Au, Nicolas Selby, Kathrin van Allen, Margot Vallance, Hilary Wevers, Ron Watkins, David Rosenblatt, David Ross, Colin J Conibear, Elizabeth Wasserman, Wyeth van Karnebeek, Clara |
| spellingShingle |
Stockler, Sylvia Corvera, Silvia Lambright, David Fogarty, Kevin Nosova, Ekaterina Leonard, Deborah Steinfeld, Robert Ackerley, Cameron Shyr, Casper Au, Nicolas Selby, Kathrin van Allen, Margot Vallance, Hilary Wevers, Ron Watkins, David Rosenblatt, David Ross, Colin J Conibear, Elizabeth Wasserman, Wyeth van Karnebeek, Clara Single point mutation in Rabenosyn-5 in a female with intractable seizures and evidence of defective endocytotic trafficking |
| author_facet |
Stockler, Sylvia Corvera, Silvia Lambright, David Fogarty, Kevin Nosova, Ekaterina Leonard, Deborah Steinfeld, Robert Ackerley, Cameron Shyr, Casper Au, Nicolas Selby, Kathrin van Allen, Margot Vallance, Hilary Wevers, Ron Watkins, David Rosenblatt, David Ross, Colin J Conibear, Elizabeth Wasserman, Wyeth van Karnebeek, Clara |
| author_sort |
Stockler, Sylvia |
| title |
Single point mutation in Rabenosyn-5 in a female with intractable seizures and evidence of defective endocytotic trafficking |
| title_short |
Single point mutation in Rabenosyn-5 in a female with intractable seizures and evidence of defective endocytotic trafficking |
| title_full |
Single point mutation in Rabenosyn-5 in a female with intractable seizures and evidence of defective endocytotic trafficking |
| title_fullStr |
Single point mutation in Rabenosyn-5 in a female with intractable seizures and evidence of defective endocytotic trafficking |
| title_full_unstemmed |
Single point mutation in Rabenosyn-5 in a female with intractable seizures and evidence of defective endocytotic trafficking |
| title_sort |
single point mutation in rabenosyn-5 in a female with intractable seizures and evidence of defective endocytotic trafficking |
| description |
|
| publisher |
BioMed Central |
| publishDate |
2014 |
| url |
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4177245/ |
| _version_ |
1613138060857311232 |