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Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly

Preaxial polydactyly (PPD) is a common limb malformation in human. A number of polydactylous mouse mutants indicate that misexpression of Shh is a common requirement for generating extra digits. Here we identify a translocation breakpoint in a PPD patient and a transgenic insertion site in the polyd...

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Detalhes bibliográficos
Main Authors: Lettice, Laura A., Horikoshi, Taizo, Heaney, Simon J. H., van Baren, Marijke J., van der Linde, Herma C., Breedveld, Guido J., Joosse, Marijke, Akarsu, Nurten, Oostra, Ben A., Endo, Naoto, Shibata, Minoru, Suzuki, Mikio, Takahashi, Eiichi, Shinka, Toshikatsu, Nakahori, Yutaka, Ayusawa, Dai, Nakabayashi, Kazuhiko, Scherer, Stephen W., Heutink, Peter, Hill, Robert E., Noji, Sumihare
Formato: Artigo
Idioma:Inglês
Publicado em: The National Academy of Sciences 2002
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC124279/
https://ncbi.nlm.nih.gov/pubmed/12032320
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.112212199
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