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

BACKGROUND: Autosomal dominant Holt-Oram syndrome (HOS) is caused by mutations in the TBX5 gene and is characterized by congenital heart and preaxial radial ray upper limb defects. Most of the TBX5 mutations found in patients with HOS cause premature truncation of the primary TBX5 transcript. TBX5 m...

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Detalles Bibliográficos
Autores principales: Böhm, Johann, Heinritz, Wolfram, Craig, Alexander, Vujic, Mihailo, Ekman-Joelsson, Britt-Marie, Kohlhase, Jürgen, Froster, Ursula
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2008
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2567295/
https://www.ncbi.nlm.nih.gov/pubmed/18828908
http://dx.doi.org/10.1186/1471-2350-9-88

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