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

Detalles Bibliográficos
Autores principales: Paquin, Ashley, Ye, Dan, Tester, David J., Kapplinger, Jamie D., Zimmermann, Michael T., Ackerman, Michael J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2017
Materias:
Translational research
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

Internet

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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