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Structural aspects of HDAC8 mechanism and dysfunction in Cornelia de Lange syndrome spectrum disorders

Cornelia de Lange Syndrome (CdLS) encompasses a broad spectrum of phenotypes characterized by distinctive craniofacial abnormalities, limb malformations, growth retardation, and intellectual disability. CdLS spectrum disorders are referred to as cohesinopathies, with ∼70% of patients having a mutati...

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Vydáno v:Protein Sci
Hlavní autoři: Deardorff, Matthew A., Porter, Nicholas J., Christianson, David W.
Médium: Artigo
Jazyk:Inglês
Vydáno: John Wiley and Sons Inc. 2016
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5079251/
https://ncbi.nlm.nih.gov/pubmed/27576763
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/pro.3030
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