Substitutions for arginine at position 780 in triple helical domain of the α1(I) chain alter folding of the type I procollagen molecule and cause osteogenesis imperfecta

OI is a clinically and genetically heterogeneous disorder characterized by bone fragility. More than 90% of patients are heterozygous for mutations in type I collagen genes, COL1A1 and COL1A2, and a common mutation is substitution for an obligatory glycine in the triple helical Gly-X-Y repeats. Few...

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Detalhes bibliográficos
Publicado no:PLoS One
Main Authors: Makareeva, Elena, Sun, Guoli, Mirigian, Lynn S., Mertz, Edward L., Vera, Juan C., Espinoza, Nydea A., Yang, Kathleen, Chen, Diana, Klein, Teri E., Byers, Peter H., Leikin, Sergey
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2018
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Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6039012/
https://ncbi.nlm.nih.gov/pubmed/29990383
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0200264
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