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Genotype–phenotype correlations in nonlethal osteogenesis imperfecta caused by mutations in the helical domain of collagen type I

Osteogenesis imperfecta (OI) is a heritable disorder with bone fragility that is often associated with short stature, tooth abnormalities (dentinogenesis imperfecta), and blue sclera. The most common mutations associated with OI result from the substitution for glycine by another amino acid in the t...

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Hlavní autoři: Rauch, Frank, Lalic, Liljana, Roughley, Peter, Glorieux, Francis H
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group 2010
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2987338/
https://ncbi.nlm.nih.gov/pubmed/20087402
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2009.242
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