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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Détails bibliographiques
Auteurs principaux: Loots, Gabriela G., Kneissel, Michaela, Keller, Hansjoerg, Baptist, Myma, Chang, Jessie, Collette, Nicole M., Ovcharenko, Dmitriy, Plajzer-Frick, Ingrid, Rubin, Edward M.
Format: Artigo
Langue:Inglês
Publié: Cold Spring Harbor Laboratory Press 2005
Sujets:
Letters
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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