Llwytho...

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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Cell Cycle
Prif Awduron: Cappuyns, Elisa, Huyghebaert, Jolien, Vandeweyer, Geert, Kooy, R. Frank
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Taylor & Francis 2018
Pynciau:
Mynediad Ar-lein: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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