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Even pore-localizing missense variants at highly conserved sites in KCNQ1-encoded K(v)7.1 channels may have wild-type function and not cause type 1 long QT syndrome: Do not rely solely on the genetic test company's interpretation
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2017
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5988472/ https://www.ncbi.nlm.nih.gov/pubmed/29876285 http://dx.doi.org/10.1016/j.hrcr.2017.04.006 |
| _version_ | 1783329290548412416 |
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| author | Paquin, Ashley Ye, Dan Tester, David J. Kapplinger, Jamie D. Zimmermann, Michael T. Ackerman, Michael J. |
| author_facet | Paquin, Ashley Ye, Dan Tester, David J. Kapplinger, Jamie D. Zimmermann, Michael T. Ackerman, Michael J. |
| author_sort | Paquin, Ashley |
| collection | PubMed |
| description | |
| format | Online Article Text |
| id | pubmed-5988472 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2017 |
| publisher | Elsevier |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-59884722018-06-06 Even pore-localizing missense variants at highly conserved sites in KCNQ1-encoded K(v)7.1 channels may have wild-type function and not cause type 1 long QT syndrome: Do not rely solely on the genetic test company's interpretation Paquin, Ashley Ye, Dan Tester, David J. Kapplinger, Jamie D. Zimmermann, Michael T. Ackerman, Michael J. HeartRhythm Case Rep Translational research Elsevier 2017-12-11 /pmc/articles/PMC5988472/ /pubmed/29876285 http://dx.doi.org/10.1016/j.hrcr.2017.04.006 Text en © 2017 Heart Rhythm Society. Published by Elsevier Inc. http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/). |
| spellingShingle | Translational research Paquin, Ashley Ye, Dan Tester, David J. Kapplinger, Jamie D. Zimmermann, Michael T. Ackerman, Michael J. Even pore-localizing missense variants at highly conserved sites in KCNQ1-encoded K(v)7.1 channels may have wild-type function and not cause type 1 long QT syndrome: Do not rely solely on the genetic test company's interpretation |
| title | Even pore-localizing missense variants at highly conserved sites in KCNQ1-encoded K(v)7.1 channels may have wild-type function and not cause type 1 long QT syndrome: Do not rely solely on the genetic test company's interpretation |
| title_full | Even pore-localizing missense variants at highly conserved sites in KCNQ1-encoded K(v)7.1 channels may have wild-type function and not cause type 1 long QT syndrome: Do not rely solely on the genetic test company's interpretation |
| title_fullStr | Even pore-localizing missense variants at highly conserved sites in KCNQ1-encoded K(v)7.1 channels may have wild-type function and not cause type 1 long QT syndrome: Do not rely solely on the genetic test company's interpretation |
| title_full_unstemmed | Even pore-localizing missense variants at highly conserved sites in KCNQ1-encoded K(v)7.1 channels may have wild-type function and not cause type 1 long QT syndrome: Do not rely solely on the genetic test company's interpretation |
| title_short | Even pore-localizing missense variants at highly conserved sites in KCNQ1-encoded K(v)7.1 channels may have wild-type function and not cause type 1 long QT syndrome: Do not rely solely on the genetic test company's interpretation |
| title_sort | even pore-localizing missense variants at highly conserved sites in kcnq1-encoded k(v)7.1 channels may have wild-type function and not cause type 1 long qt syndrome: do not rely solely on the genetic test company's interpretation |
| topic | Translational research |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5988472/ https://www.ncbi.nlm.nih.gov/pubmed/29876285 http://dx.doi.org/10.1016/j.hrcr.2017.04.006 |
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