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Targeted exon capture and NGS to investigate an undefined myopathy reveal RYR1 variants
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2014
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4139682/ http://dx.doi.org/10.1186/1471-2253-14-S1-A15 |
| _version_ | 1782331395429892096 |
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| author | Stowell, Kathryn Langton, Elaine Pollock, Neil Schiemann, Anja |
| author_facet | Stowell, Kathryn Langton, Elaine Pollock, Neil Schiemann, Anja |
| author_sort | Stowell, Kathryn |
| collection | PubMed |
| description | |
| format | Online Article Text |
| id | pubmed-4139682 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2014 |
| publisher | BioMed Central |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-41396822014-08-22 Targeted exon capture and NGS to investigate an undefined myopathy reveal RYR1 variants Stowell, Kathryn Langton, Elaine Pollock, Neil Schiemann, Anja BMC Anesthesiol Oral Presentation BioMed Central 2014-08-18 /pmc/articles/PMC4139682/ http://dx.doi.org/10.1186/1471-2253-14-S1-A15 Text en Copyright © 2014 Stowell et al; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/4.0 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 cited. 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. |
| spellingShingle | Oral Presentation Stowell, Kathryn Langton, Elaine Pollock, Neil Schiemann, Anja Targeted exon capture and NGS to investigate an undefined myopathy reveal RYR1 variants |
| title | Targeted exon capture and NGS to investigate an undefined myopathy reveal RYR1 variants |
| title_full | Targeted exon capture and NGS to investigate an undefined myopathy reveal RYR1 variants |
| title_fullStr | Targeted exon capture and NGS to investigate an undefined myopathy reveal RYR1 variants |
| title_full_unstemmed | Targeted exon capture and NGS to investigate an undefined myopathy reveal RYR1 variants |
| title_short | Targeted exon capture and NGS to investigate an undefined myopathy reveal RYR1 variants |
| title_sort | targeted exon capture and ngs to investigate an undefined myopathy reveal ryr1 variants |
| topic | Oral Presentation |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4139682/ http://dx.doi.org/10.1186/1471-2253-14-S1-A15 |
| work_keys_str_mv | AT stowellkathryn targetedexoncaptureandngstoinvestigateanundefinedmyopathyrevealryr1variants AT langtonelaine targetedexoncaptureandngstoinvestigateanundefinedmyopathyrevealryr1variants AT pollockneil targetedexoncaptureandngstoinvestigateanundefinedmyopathyrevealryr1variants AT schiemannanja targetedexoncaptureandngstoinvestigateanundefinedmyopathyrevealryr1variants |