Deletions Involving Long-Range Conserved Nongenic Sequences Upstream and Downstream of FOXL2 as a Novel Disease-Causing Mechanism in Blepharophimosis Syndrome

The expression of a gene requires not only a normal coding sequence but also intact regulatory regions, which can be located at large distances from the target genes, as demonstrated for an increasing number of developmental genes. In previous mutation studies of the role of FOXL2 in blepharophimosi...

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主要な著者: Beysen, D., Raes, J., Leroy, B. P., Lucassen, A., Yates, J. R. W., Clayton-Smith, J., Ilyina, H., Brooks, S. Sklower, Christin-Maitre, S., Fellous, M., Fryns, J. P., Kim, J. R., Lapunzina, P., Lemyre, E., Meire, F., Messiaen, L. M., Oley, C., Splitt, M., Thomson, J., Peer, Y. Van de, Veitia, R. A., De Paepe, A., De Baere, E.
フォーマット: Artigo
言語:Inglês
出版事項: The American Society of Human Genetics 2005
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Articles
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC1224524/
https://ncbi.nlm.nih.gov/pubmed/15962237
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