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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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| 主要な著者: | , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
2011
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| 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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