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The recurrent causal mutation for osteogenesis imperfecta type V occurs at a highly methylated CpG dinucleotide within the IFITM5 gene
Recent studies have identified the molecular defect underlying autosomal dominant osteogenesis imperfecta (OI) type V. Unlike all other OI types, which are characterized by high genetic heterogeneity, OI type V appears consistently associated to a unique de novo C>T transition within the 5′ UTR o...
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| Publicado no: | J Pediatr Genet |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Georg Thieme Verlag KG
2014
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| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5020982/ https://ncbi.nlm.nih.gov/pubmed/27625865 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3233/PGE-14079 |
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