Transcriptional Defect of an Inherited NKX2-5 Haplotype Comprising a SNP, a Nonsynonymous and a Synonymous Mutation, Associated with Human Congenital Heart Disease

Open Access

Peer-reviewed

Research Article

Stella Marie Reamon-Buettner,

Affiliation Fraunhofer Institute of Toxicology and Experimental Medicine, Hannover, Germany
⨯
Evelyn Sattlegger,

Affiliation Institute of Natural Sciences, Massey University, Auckland, New Zealand
⨯
Yari Ciribilli,

Affiliation Laboratory of Transcriptional Networks, Centre for Integrative Biology, University of Trento, Mattarello, Italy
⨯
Alberto Inga,

Affiliation Laboratory of Transcriptional Networks, Centre for Integrative Biology, University of Trento, Mattarello, Italy
⨯
Armin Wessel ,

¶† Deceased.

Affiliation Department of Pediatric Cardiology and Intensive Care Medicine, Hannover Medical School, Hannover, Germany
⨯
Jürgen Borlak

* E-mail: Borlak.Juergen@mh-hannover.de.

Affiliation Centre for Pharmacology and Toxicology, Hannover Medical School, Hannover, Germany
⨯

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Heart
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Transactivation
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Haplotypes
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Galactose
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Mutation
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Germline mutation
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Messenger RNA
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RNA folding
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