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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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Detalhes bibliográficos
Publicado no:Cell Cycle
Principais autores: Cappuyns, Elisa, Huyghebaert, Jolien, Vandeweyer, Geert, Kooy, R. Frank
Formato: Artigo
Idioma:Inglês
Publicado em: Taylor & Francis 2018
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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