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Persistence of Intracellular and Extracellular Changes after Incompletely Suppressing Expression of the R789C (p.R989C) and R992C (p.R1192C) Collagen II Mutants

Mutations in COL2A1 produce a spectrum of disorders whose hallmark feature is alterations in skeletal development. Attempts to counteract the effects of collagen mutations at the molecular level have been relatively ineffective due to the inability to selectively suppress a mutant allele, and failur...

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Publicat a:Hum Mutat
Autors principals: Jensen, Deborah A., Steplewski, Andrzej, Gawron, Katarzyna, Fertala, Andrzej
Format: Artigo
Idioma:Inglês
Publicat: 2011
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4246508/
https://ncbi.nlm.nih.gov/pubmed/21472893
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.21506
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