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

Germline mutations in cardiac-specific transcription factor genes have been associated with congenital heart disease (CHD) and the homeodomain transcription factor NKX2-5 is an important member of this group. Indeed, more than 40 heterozygous NKX2-5 germline mutations have been observed in individua...

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Main Authors: Reamon-Buettner, Stella Marie, Sattlegger, Evelyn, Ciribilli, Yari, Inga, Alberto, Wessel, Armin, Borlak, Jürgen
Format: Artigo
Sprog:Inglês
Udgivet: Public Library of Science 2013
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3869772/
https://ncbi.nlm.nih.gov/pubmed/24376681
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0083295
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