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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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Principais autores: Elena Makareeva, Guoli Sun, Lynn S Mirigian, Edward L Mertz, Juan C Vera, Nydea A Espinoza, Kathleen Yang, Diana Chen, Teri E Klein, Peter H Byers, Sergey Leikin
Format: Artigo
Sprog:Inglês
Udgivet: Public Library of Science (PLoS) 2018-01-01
Serier:PLoS ONE
Online adgang:https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0200264&type=printable
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