Article
A survey of TWIST for mutations in craniosynostosis reveals a variable length polyglycine tract in asymptomatic individuals.
Human mutation - 1 Dec 2001
Elanko N, Sibbring J S, Metcalfe K A, Clayton-Smith J, Donnai D, Temple I K, Wall S A, Wilkie A O
Abstract excerpt
The human TWIST gene encodes a 202 amino acid transcription factor characterized by a highly conserved basic-helix-loop-helix motif in the C-terminal half, and a less conserved N-terminal half that has binding activity toward the histone acetyltransferase p300. Between these domains is a repeat r...
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