Functional analysis of the novel <it>TBX5 </it>c.1333delC mutation resulting in an extended TBX5 protein

• Main Authors: Ekman-Joelsson (Author), Vujic Mihailo (Author), Craig Alexander (Author), Heinritz Wolfram (Author), Böhm Johann (Author), Kohlhase Jürgen (Author), Froster Ursula (Author)
• Format: Book
• Published: BMC, 2008-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

<p>Abstract</p> <p>Background</p> <p>Autosomal dominant Holt-Oram syndrome (HOS) is caused by mutations in the <it>TBX5 </it>gene and is characterized by congenital heart and preaxial radial ray upper limb defects. Most of the <it>TBX5 </it>mutat...