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Identification of a novel non-sense mutation in TBX5 gene in pediatric patients with congenital heart defects

Introduction: Congenital heart diseases (CHDs) are structural cardiovascular malformations that arise from abnormal development of the heart during the prenatal life. Mutations in the TBX5 gene, encoding T-box transcription factor, are a major cause of CHD. To evaluate the TBX5 mutations in hotspot...

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Detalles Bibliográficos
Autores principales: Khatami, Mehri, Heidari, Mohammad Mehdi, Kazeminasab, Fatemeh, Zare Bidaki, Razieh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Tabriz University of Medical Sciences 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5913692/
https://www.ncbi.nlm.nih.gov/pubmed/29707177
http://dx.doi.org/10.15171/jcvtr.2018.07