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

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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Bibliographic Details
Main Authors: Ekman-Joelsson Britt-Marie, Vujic Mihailo, Craig Alexander, Heinritz Wolfram, Böhm Johann, Kohlhase Jürgen, Froster Ursula
Format: Article
Language:English
Published: BMC 2008-10-01
Series:BMC Medical Genetics
Online Access:http://www.biomedcentral.com/1471-2350/9/88

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http://www.biomedcentral.com/1471-2350/9/88

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