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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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Detalhes bibliográficos
Principais autores: Fröhlich, Leopold F., Mrakovcic, Maria, Steinborn, Ralf, Chung, Ung-Il, Bastepe, Murat, Jüppner, Harald
Formato: Artigo
Idioma:Inglês
Publicado em: National Academy of Sciences 2010
Assuntos:
Acesso em linha: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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