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Otosclerosis Associated with a De Novo Mutation −832G > A in the TGFB1 Gene Promoter Causing a Decreased Expression Level
Otosclerosis (OTSC) is defined by abnormal bone remodeling in the otic capsule of middle ear which leads to conductive hearing loss. In our previous study, we have identified a de novo heterozygous mutation −832G > A in the promoter of TGFB1 in an otosclerosis patient. In the present study, we pr...
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| Publicado no: | Sci Rep |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group
2016
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4941736/ https://ncbi.nlm.nih.gov/pubmed/27404893 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep29572 |
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