Functional analysis of natural mutations in two TWIST protein motifs.

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...

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Bibliografiske detaljer
Main Authors:	Funato, N, Twigg, SR, Higashihori, N, Ohyama, K, Wall, SA, Wilkie, A, Nakamura, M
Format:	Journal article
Sprog:	English
Udgivet:	2005

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