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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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Formato: | Artigo |
Idioma: | Inglês |
Publicado em: |
BMJ Group
2004
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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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