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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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Bibliografiska uppgifter
I publikationen:J Struct Biol
Huvudupphovsmän: Xiao, Jianxi, Yang, Zhangfu, Sun, Xiuxia, Addabbo, Rayna, Baum, Jean
Materialtyp: Artigo
Språk:Inglês
Publicerad: 2015
Ämnen:
Länkar: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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