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Local amino acid sequence patterns dominate the heterogeneous phenotype for the collagen connective tissue disease Osteogenesis Imperfecta resulting from Gly mutations

Osteogenesis Imperfecta (OI), a hereditary connective tissue disease in collagen that arises from a single Gly->X mutation in the collagen chain, varies widely in phenotype from perinatal lethal to mild. It is unclear why there is such a large variation in the severity of the disease considering...

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Podrobná bibliografie
Vydáno v:J Struct Biol
Hlavní autoři: Xiao, Jianxi, Yang, Zhangfu, Sun, Xiuxia, Addabbo, Rayna, Baum, Jean
Médium: Artigo
Jazyk:Inglês
Vydáno: 2015
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4898063/
https://ncbi.nlm.nih.gov/pubmed/25980613
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jsb.2015.05.002
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