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Variable penetrance of Andersen-Tawil syndrome in a family with a rare missense KCNJ2 mutation
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Wolters Kluwer
2018
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6244022/ https://www.ncbi.nlm.nih.gov/pubmed/30533530 http://dx.doi.org/10.1212/NXG.0000000000000284 |
| _version_ | 1783372014806892544 |
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| author | Deeb, Reem Veerapandiyan, Aravindhan Tawil, Rabi Treidler, Simona |
| author_facet | Deeb, Reem Veerapandiyan, Aravindhan Tawil, Rabi Treidler, Simona |
| author_sort | Deeb, Reem |
| collection | PubMed |
| description | |
| format | Online Article Text |
| id | pubmed-6244022 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2018 |
| publisher | Wolters Kluwer |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-62440222018-12-07 Variable penetrance of Andersen-Tawil syndrome in a family with a rare missense KCNJ2 mutation Deeb, Reem Veerapandiyan, Aravindhan Tawil, Rabi Treidler, Simona Neurol Genet Clinical/Scientific Notes Wolters Kluwer 2018-10-25 /pmc/articles/PMC6244022/ /pubmed/30533530 http://dx.doi.org/10.1212/NXG.0000000000000284 Text en Copyright © 2018 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology. This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives License 4.0 (CC BY-NC-ND) (http://creativecommons.org/licenses/by-nc-nd/4.0/) , which permits downloading and sharing the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal. |
| spellingShingle | Clinical/Scientific Notes Deeb, Reem Veerapandiyan, Aravindhan Tawil, Rabi Treidler, Simona Variable penetrance of Andersen-Tawil syndrome in a family with a rare missense KCNJ2 mutation |
| title | Variable penetrance of Andersen-Tawil syndrome in a family with a rare missense KCNJ2 mutation |
| title_full | Variable penetrance of Andersen-Tawil syndrome in a family with a rare missense KCNJ2 mutation |
| title_fullStr | Variable penetrance of Andersen-Tawil syndrome in a family with a rare missense KCNJ2 mutation |
| title_full_unstemmed | Variable penetrance of Andersen-Tawil syndrome in a family with a rare missense KCNJ2 mutation |
| title_short | Variable penetrance of Andersen-Tawil syndrome in a family with a rare missense KCNJ2 mutation |
| title_sort | variable penetrance of andersen-tawil syndrome in a family with a rare missense kcnj2 mutation |
| topic | Clinical/Scientific Notes |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6244022/ https://www.ncbi.nlm.nih.gov/pubmed/30533530 http://dx.doi.org/10.1212/NXG.0000000000000284 |
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