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An In Vivo Cardiac Assay to Determine the Functional Consequences of Putative Long QT Syndrome Mutations

RATIONALE: Genetic testing for Long QT Syndrome (LQTS) is now a standard and integral component of clinical cardiology. A major obstacle to the interpretation of genetic findings is the lack of robust functional assays to determine the pathogenicity of identified gene variants in a high throughput m...

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Publicat a:Circ Res
Autors principals: Jou, Chuanchau J., Barnett, Spencer M., Bian, Jian-Tao, Weng, H. Cindy, Sheng, Xiaoming, Tristani-Firouzi, Martin
Format: Artigo
Idioma:Inglês
Publicat: 2013
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4479126/
https://ncbi.nlm.nih.gov/pubmed/23303164
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1161/CIRCRESAHA.112.300664
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