The Characterization of a Human Disease-Associated Mutation Nkx2.5 R142C Using In vitro and In vivo Models
Nkx2.5 is a cardiac transcription factor that plays a critical role in heart development. In humans, heterozygous mutations in the NKX2.5 gene result in congenital heart defects (CHDs), but the molecular mechanisms by which these mutations cause the defects are still unknown. NKX2.5 R142C is a mutat...
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| Language: | en |
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Université d'Ottawa / University of Ottawa
2017
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| Online Access: | http://hdl.handle.net/10393/35817 http://dx.doi.org/10.20381/ruor-15825 |