Characterization of a novel KCNJ2 sequence variant detected in Andersen-Tawil syndrome patients

BACKGROUND: Mutations in the KCNJ2 gene encoding the ion channel Kir2.1 have been linked to the Andersen-Tawil syndrome (ATS). Molecular genetic screening performed in a family exhibiting clinical ATS phenotypes unmasked a novel sequence variant (c.434A > G, p.Y145C) in this gene. The aim of this...

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Detalles Bibliográficos
Autores principales: Scheiper, Stefanie, Hertel, Brigitte, Beckmann, Britt-Maria, Kääb, Stefan, Thiel, Gerhard, Kauferstein, Silke
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5634867/
https://www.ncbi.nlm.nih.gov/pubmed/29017447
http://dx.doi.org/10.1186/s12881-017-0472-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5634867/
https://www.ncbi.nlm.nih.gov/pubmed/29017447
http://dx.doi.org/10.1186/s12881-017-0472-x

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