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Targeted deletion of the Nesp55 DMR defines another Gnas imprinting control region and provides a mouse model of autosomal dominant PHP-Ib

Approximately 100 genes undergo genomic imprinting. Mutations in fewer than 10 imprinted genetic loci, including GNAS, are associated with complex human diseases that differ phenotypically based on the parent transmitting the mutation. Besides the ubiquitously expressed Gsα, which is of broad biolog...

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Bibliographic Details
Main Authors: Fröhlich, Leopold F., Mrakovcic, Maria, Steinborn, Ralf, Chung, Ung-Il, Bastepe, Murat, Jüppner, Harald
Format: Artigo
Language:Inglês
Published: National Academy of Sciences 2010
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC2889123/
https://ncbi.nlm.nih.gov/pubmed/20427744
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.0910224107
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