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...
Gardado en:
| Principais autores: | , , , , , |
|---|---|
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
Public Library of Science (PLoS)
2013-01-01
|
| Series: | PLoS ONE |
| Acceso en liña: | http://europepmc.org/articles/PMC3869772?pdf=render |
| Tags: |
Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!
|