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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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| 出版年: | J Struct Biol |
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| 主要な著者: | , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
2015
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| 主題: | |
| オンライン･アクセス: | 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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