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R992C (p.R1192C)Substitution in Collagen II Alters the Structure of Mutant Molecules and Induces the Unfolded Protein Response

We investigated the molecular bases of spondyloepiphyseal dysplasia (SED) associated with the R992C (p.R1192C) substitution in collagen II. At the protein level we analyzed the structure and integrity of mutant molecules, and at the cellular level we specifically studied the effects of the presence...

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Autori principali: Chung, Hye Jin, Jensen, Deborah A., Gawron, Katarzyna, Steplewski, Andrzej, Fertala, Andrzej
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2009
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2749300/
https://ncbi.nlm.nih.gov/pubmed/19433093
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jmb.2009.05.004
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