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...
Үндсэн зохиолчид: | Funato, N, Twigg, SR, Higashihori, N, Ohyama, K, Wall, SA, Wilkie, A, Nakamura, M |
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Формат: | Journal article |
Хэл сонгох: | English |
Хэвлэсэн: |
2005
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Ижил төстэй зүйлс
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