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Genomic deletion of a long-range bone enhancer misregulates sclerostin in Van Buchem disease
Mutations in distant regulatory elements can have a negative impact on human development and health, yet because of the difficulty of detecting these critical sequences, we predominantly focus on coding sequences for diagnostic purposes. We have undertaken a comparative sequence-based approach to ch...
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| Auteurs principaux: | , , , , , , , , |
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| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
Cold Spring Harbor Laboratory Press
2005
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1172036/ https://ncbi.nlm.nih.gov/pubmed/15965026 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/gr.3437105 |
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