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Analyses of the Effects That Disease-Causing Missense Mutations Have on the Structure and Function of the Winged-Helix Protein FOXC1

Five missense mutations of the winged-helix FOXC1 transcription factor, found in patients with Axenfeld-Rieger (AR) malformations, were investigated for their effects on FOXC1 structure and function. Molecular modeling of the FOXC1 forkhead domain predicted that the missense mutations did not alter...

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Detalhes bibliográficos
Main Authors: Saleem, Ramsey A., Banerjee-Basu, Sharmila, Berry, Fred B., Baxevanis, Andreas D., Walter, Michael A.
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society of Human Genetics 2001
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1274476/
https://ncbi.nlm.nih.gov/pubmed/11179011
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