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...
Main Authors: | 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 |
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Format: | Article |
Language: | English |
Published: |
Public Library of Science (PLoS)
2018-01-01
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Series: | PLoS ONE |
Online Access: | http://europepmc.org/articles/PMC6039012?pdf=render |
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