Functional analysis of natural mutations in two TWIST protein motifs.
The basic helix-loop-helix protein Twist, a transcriptional repressor, is essential for embryogenesis in both invertebrates and vertebrates. Haploinsufficiency of the human TWIST1 gene, which causes the craniosynostosis disorder Saethre-Chotzen syndrome (SCS), is related to failure to repress transc...
Prif Awduron: | , , , , , , |
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Fformat: | Journal article |
Iaith: | English |
Cyhoeddwyd: |
2005
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