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Osteogenesis imperfecta without features of type V caused by a mutation in the IFITM5 gene

Osteogenesis imperfecta (OI) is typically caused by mutations in type 1 collagen genes, but in recent years new recessive and dominant forms caused by mutations in a plethora of different genes have been characterized. OI type V is a dominant form caused by the recurrent (c.-14C>T) mutation in th...

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Библиографические подробности
Главные авторы: Grover, Monica, Campeau, Philippe M., Lietman, Caressa Dee, Lu, James T., Gibbs, Richard A., Schlesinger, Alan E., Lee, Brendan H.
Формат: Artigo
Язык:Inglês
Опубликовано: 2013
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Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC3800501/
https://ncbi.nlm.nih.gov/pubmed/23674381
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jbmr.1983
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