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Identification of a polymorphism (G83S) in the TWIST gene in Taiwanese

✍ Scribed by Chi-Fan Yang; Jer-Yuarn Wu; Fuu-jen Tsai; Cheng-Chun Lee; Wei-De Lin

Publisher: John Wiley and Sons
Year: 2000
Tongue: English
Weight: 12 KB
Volume: 16
Category: Article
ISSN: 1059-7794
DOI: 10.1002/1098-1004(200011)16:5<448::aid-humu21>3.0.co;2-#

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## Saethre -Chotzen syndrome is a relatively common craniosynostosis disorder with autosomal dominant inheritance. Mutations in the TWIST gene have been identified in patients with Saethre-Chotzen syndrome. The TWIST gene product is a transcription factor with DNA binding and helix-loop-helix domai