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- Title
Functional analysis of novel TBX5 T-box mutations associated with Holt–Oram syndrome.
- Authors
Boogerd, Cornelis J. J.; Dooijes, Dennis; Ilgun, Aho; Hordijk, Roel; Van De Laar, Ingrid M. B. H.; Rump, Patrick; Veenstra-Knol, Hermine E.; Moorman, Antoon F. M.; Barnett, Phil; Postma, Alex V.
- Abstract
Aims: Holt–Oram syndrome (HOS) is a heart/hand syndrome clinically characterized by upper limb and cardiac malformations. Mutations in T-box transcription factor 5 (TBX5) underlie this syndrome, the majority of which lead to premature stops. In this study, we present our functional analyses of five (novel) missense TBX5 mutations identified in HOS patients, most of whom presented with severe cardiac malformations.
- Subjects
TRANSCRIPTION factors; GENETICS; CONGENITAL heart disease; GENETIC mutation; HEART diseases
- Publication
Cardiovascular Research, 2010, Vol 88, Issue 1, p130
- ISSN
0008-6363
- Publication type
Article
- DOI
10.1093/cvr/cvq178