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Somatic NKX2-5 mutations as a novel mechanism of disease in complex congenital heart disease

NKX2–5 is a pivotal transcription factor in heart development. Previous studies on lymphocytic DNA provided evidence of familial NKX2–5 gene mutations in cardiac malformations. Common mutations are rare in unrelated families. We analysed, by direct sequencing, the gene encoding NKX2–5 in the disease...

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Detalhes bibliográficos
Main Authors: Reamon-Buettner, S, Borlak, J
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2004
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1735891/
https://ncbi.nlm.nih.gov/pubmed/15342699
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2003.017483
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