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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...

詳細記述

保存先:
書誌詳細
主要な著者: Xiao, Jianxi, Cheng, Haiming, Silva, Teresita, Baum, Jean, Brodsky, Barbara
フォーマット: Artigo
言語:Inglês
出版事項: 2011
主題:
オンライン・アクセス: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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