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Loss of function and inhibitory effects of human CSX/NKX2.5 homeoprotein mutations associated with congenital heart disease

CSX/NKX2.5 is an evolutionarily conserved homeodomain-containing (HD-containing) transcription factor that is essential for early cardiac development. Recently, ten different heterozygous CSX/NKX2.5 mutations were found in patients with congenital heart defects that are transmitted in an autosomal d...

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Autori principali: Kasahara, Hideko, Lee, Bora, Schott, Jean-Jacques, Benson, D. Woodrow, Seidman, J.G., Seidman, Christine E., Izumo, Seigo
Natura: Artigo
Lingua:Inglês
Pubblicazione: American Society for Clinical Investigation 2000
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC314312/
https://ncbi.nlm.nih.gov/pubmed/10903346
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