Functional analysis of the novel <it>TBX5 </it>c.1333delC mutation resulting in an extended TBX5 protein
<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...
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Main Authors: | Ekman-Joelsson (Author), Vujic Mihailo (Author), Craig Alexander (Author), Heinritz Wolfram (Author), Böhm Johann (Author), Kohlhase Jürgen (Author), Froster Ursula (Author) |
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Format: | Book |
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BMC,
2008-10-01T00:00:00Z.
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Online Access: | Connect to this object online. |
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