132 Non-synonymous SMAD6 mutations impaired inhibition of bmp signalling in patients with congenital cardiovascular malformation

IntroductionCongenital cardiovascular malformation (CVM) exhibits familial predisposition but the specific genetic factors involved are unknown. Bone morphogenetic proteins (BMPs) regulate many processes during development, including cardiac development. Five genes of the BMP signalling were surveye...

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Veröffentlicht in:	Heart (British Cardiac Society) 2011-06, Vol.97 (Suppl 1), p.A75-A75
Hauptverfasser:	Tan, H L, Glen, E A, Topf, A L, Hall, D H, O'Sullivan, J J, Sneddon, L, Wren, C, Avery, P, Lewis, R J, ten Dijke, P, Arthur, H M, Goodship, J A, Keavney, B D
Format:	Artikel
Sprache:	eng
Schlagworte:	BMP signalling cardiovascular malformation SMAD6
Online-Zugang:	Volltext
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