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Osteogenesis Imperfecta Missense Mutations in Collagen: Structural consequences of a glycine to alanine replacement at a highly charged site

Glycine is required as every third residue in the collagen triple-helix, and a missense mutation leading to the replacement of even one Gly in the repeating (Gly-Xaa-Yaa)(n) sequence by a larger residue leads to a pathological condition. Gly to Ala missense mutations are highly underrepresented in o...

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Bibliographische Detailangaben
Hauptverfasser: Xiao, Jianxi, Cheng, Haiming, Silva, Teresita, Baum, Jean, Brodsky, Barbara
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2011
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3292618/
https://ncbi.nlm.nih.gov/pubmed/22054507
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1021/bi201476a
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