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Mutations in ADNP affect expression and subcellular localization of the protein
Truncating de novo mutations in ADNP have been identified in patients with the Helsmoortel-Van der Aa syndrome. However correlations between the distinct mutations and their impact on the protein have not been studied before. Here we report the effect of mutations in ADNP by examining the expression...
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Publicado no: | Cell Cycle |
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Principais autores: | , , , |
Formato: | Artigo |
Idioma: | Inglês |
Publicado em: |
Taylor & Francis
2018
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Assuntos: | |
Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6110598/ https://ncbi.nlm.nih.gov/pubmed/29911927 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1080/15384101.2018.1471313 |
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