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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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| Main Authors: | , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2013
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| Assuntos: | |
| Acesso em linha: | 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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